Gene Name Jackson Labs Gene ID Jackson Labs Gene Symbol Number of Phenoslim Alleles Allele Symbol Allele Name Allele Molecular Definition Allele Jnum IDs Phenoslim ID Phenoslim Term Phenoslim Definition ABL MGI:87859 Abl1 3 Abl1 Abelson leukemia oncogene m1 "A promoterless neomycin resistance gene was inserted into coding sequences corresponding to the carboxy terminus of the protein, downstream of the tyrosine kinase domain and nuclear targeting sequences. This allele expresses a protein with a functional k inase domain but a disrupted carboxy terminus containing the DNA and actin binding domains." J:14644 J:28795 J:34903 J:72518 J:72519 ABL MGI:87859 Abl1 3 Abl1 "targeted mutation 1, Richard C Mulligan" "A genomic fragment containing exon 5 and part of exon 6 was replaced by a neomycin resistance cassette. These sequences encode the N-terminal part of the tyrosine kinase domain, including the nucleotide and ATP binding sites." J:34643 J:51887 J:60749 J:62221 J:66085 J:70012 J:72875 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ABL MGI:87859 Abl1 3 Abl1 "targeted mutation 1, Richard C Mulligan" "A genomic fragment containing exon 5 and part of exon 6 was replaced by a neomycin resistance cassette. These sequences encode the N-terminal part of the tyrosine kinase domain, including the nucleotide and ATP binding sites." J:34643 J:51887 J:60749 J:62221 J:66085 J:70012 J:72875 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ABL MGI:87859 Abl1 3 Abl1 "targeted mutation 1, Richard C Mulligan" "A genomic fragment containing exon 5 and part of exon 6 was replaced by a neomycin resistance cassette. These sequences encode the N-terminal part of the tyrosine kinase domain, including the nucleotide and ATP binding sites." J:34643 J:51887 J:60749 J:62221 J:66085 J:70012 J:72875 MGI:2173580 metabolism: other metabolic defect "altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry\nExample: cyanosis altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry\nExample: cyanosis" ABL MGI:87859 Abl1 3 Abl1 "targeted mutation 1, Richard C Mulligan" "A genomic fragment containing exon 5 and part of exon 6 was replaced by a neomycin resistance cassette. These sequences encode the N-terminal part of the tyrosine kinase domain, including the nucleotide and ATP binding sites." J:34643 J:51887 J:60749 J:62221 J:66085 J:70012 J:72875 MGI:2173581 metabolism: other metabolic defect "altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry\nExample: cyanosis altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry\nExample: cyanosis" ABL MGI:87859 Abl1 3 Abl1 "targeted mutation 1, Richard C Mulligan" "A genomic fragment containing exon 5 and part of exon 6 was replaced by a neomycin resistance cassette. These sequences encode the N-terminal part of the tyrosine kinase domain, including the nucleotide and ATP binding sites." J:34643 J:51887 J:60749 J:62221 J:66085 J:70012 J:72875 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" ABL MGI:87859 Abl1 3 Abl1 "targeted mutation 1, Richard C Mulligan" "A genomic fragment containing exon 5 and part of exon 6 was replaced by a neomycin resistance cassette. These sequences encode the N-terminal part of the tyrosine kinase domain, including the nucleotide and ATP binding sites." J:34643 J:51887 J:60749 J:62221 J:66085 J:70012 J:72875 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, Martin M Matzuk" A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. J:23924 J:71932 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, Martin M Matzuk" A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. J:23924 J:71932 MGI:2173553 teeth: tooth dysmorphology "abnormal development of teeth resulting in morphological abnormality\nExample: long teeth, no teeth, brittle teeth" ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, Martin M Matzuk" A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. J:23924 J:71932 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, Martin M Matzuk" A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. J:23924 J:71932 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, Martin M Matzuk" A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. J:23924 J:71932 MGI:2173624 glands: functional anomalies "altered glandular secretion not due to anatomical defect Example: elevated serum levels of ACTH, hypersecretion of cortisol" ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, Martin M Matzuk" A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. J:23924 J:71932 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, Martin M Matzuk" A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. J:23924 J:71932 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, Martin M Matzuk" A PGK-hprt minigene replaced a genomic fragment containing the initiation codon and the sequences encoding the signal peptide. Northern blot analysis indicated that no transcript was detectable in liver of homozygous mice. J:23924 J:71932 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ACTR2 MGI:102806 Acvr2 3 Acvr2 "targeted mutation 1, En Li" The kinase domain of this gene was disrupted by replacing 135 bp of exon 9 and 1.3 kb of intron 9 with a neo cassette by homologous recombination. Homozygous mutant animals were identified by Southern blot analysis. J:57262 J:63870 J:73527 J:79880 ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2173588 heart/cardiovascular system: blood circulatory defects "abnormalities in the flow of blood from the heart to the vasculature and back to the heart\nExample: abnormal vascular permeability, vasoconstriction" ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ACTR2B MGI:87912 Acvr2b 2 Acvr2b "targeted mutation 1, En Li" A 1.4kb genomic fragment containing two exons encoding the transmembrane and part of the kinase domains was replaced by a neomycin resistance cassette. J:42018 J:57262 J:63870 J:73527 J:78247 J:79880 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" AKT1 MGI:87986 Akt1 3 Akt1 "targeted mutation 1, Morris Birnbaum" A neomycin resistance gene was used to replace exons 4 through 7 and the 5' portion of exon 8. Exon 5 is known to encode an lysine residue essential for catalytic activity. Expression was undetected in homozygous mutant animals by both Northern and Wester n blot analyses. The authors noted that the expression of Akt2 and Akt3 was normal in mice homozygous for the targeted allele. J:72176 AKT1 MGI:87986 Akt1 3 Akt1 "targeted mutation 1, Nissim Hay" Exons 8 through 13 were deleted by the insertion of a neomycin selection cassette. Encoded protein was not deteced by Western blot analysis of fibroblasts isolated from homozygous mutant embryos. J:71404 AKT2 MGI:104874 Akt2 3 Akt2 "targeted mutation 1, Morris J Birnbaum" "An frt-flanked PGK-neomycin resistance cassette was inserted into intron 5, and loxP sites were inserted flanking exons 4 and 5." J:71491 MGI:2173579 metabolism: abnormal glucose homeostasis "abnormal glucose processing and utilization\nExample: hyperglycemia, hypoglycemia" AKT2 MGI:104874 Akt2 3 Akt2 "targeted mutation 1.1, Morris J Birnbaum" "This allele is a derivative of Akt2. Cre-mediated recombination in vivo under the control of a 6 kb 5'-flanking sequence from the Pou3f4 gene excised the floxed exons 4 and 5 in the germline. The excision of exons 4 and 5 results in a frameshift m utation that would lead to a premature termination even if the remaining exon 3 were to splice to exon 6. Exon 5 encodes the lysine residue necessary for catalytic activity. Western blot analyses using a polyclonal antibody did not detect protein in liver , muscle, and isolated adipocytes from homozygous mice." J:71491 ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, En Li" "A neomycin selection cassette was inserted into exon 4, which encodes the transmembrane domain. Alternative splicing that skips the disrupted exon is predicted to cause a frame shift in the kinase domain." J:54394 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, En Li" "A neomycin selection cassette was inserted into exon 4, which encodes the transmembrane domain. Alternative splicing that skips the disrupted exon is predicted to cause a frame shift in the kinase domain." J:54394 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, En Li" "A neomycin selection cassette was inserted into exon 4, which encodes the transmembrane domain. Alternative splicing that skips the disrupted exon is predicted to cause a frame shift in the kinase domain." J:54394 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, En Li" "A neomycin selection cassette was inserted into exon 4, which encodes the transmembrane domain. Alternative splicing that skips the disrupted exon is predicted to cause a frame shift in the kinase domain." J:54394 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, En Li" "A neomycin selection cassette was inserted into exon 4, which encodes the transmembrane domain. Alternative splicing that skips the disrupted exon is predicted to cause a frame shift in the kinase domain." J:54394 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, Richard R Behringer" "A 3.1 kb segment of the gene, including exon 5, was replaced with a PGK-hprt expression cassette." J:57670 J:80723 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, Richard R Behringer" "A 3.1 kb segment of the gene, including exon 5, was replaced with a PGK-hprt expression cassette." J:57670 J:80723 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, Richard R Behringer" "A 3.1 kb segment of the gene, including exon 5, was replaced with a PGK-hprt expression cassette." J:57670 J:80723 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, Richard R Behringer" "A 3.1 kb segment of the gene, including exon 5, was replaced with a PGK-hprt expression cassette." J:57670 J:80723 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" ALK2 MGI:2445032 Acvr1 4 Acvr1 "targeted mutation 1, Andras Nagy" A single loxP site was inserted into intron 6 and a loxP flanked neomycin selection cassette was inserted into intron 7. J:73148 ALK4 MGI:1338944 Acvr1b 2 Acvr1b "targeted mutation 1, En Li" A neomycin cassette was inserted into the exon encoding kinase subdomain VI. J:46637 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ALK4 MGI:1338944 Acvr1b 2 Acvr1b "targeted mutation 1, En Li" A neomycin cassette was inserted into the exon encoding kinase subdomain VI. J:46637 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" ALK4 MGI:1338944 Acvr1b 2 Acvr1b "targeted mutation 1, En Li" A neomycin cassette was inserted into the exon encoding kinase subdomain VI. J:46637 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" AMPKa2 MGI:1336173 Prkaa2 3 Prkaa2 "targeted mutation 1, Benoit Viollet" The exon encoding amino acids 189 through 260 was flanked by an upstream single loxP site and a downstream floxed neo cassette. J:81120 J:82537 AMPKa2 MGI:1336173 Prkaa2 3 Prkaa2 "targeted mutation 1.1, Benoit Viollet" The floxed region containing the exon encoding amino acids 189 through 260 and a downstream neo cassette was excised from Prkaa2 in the germline via in vivo cre-mediated recombination. Protein was undetected by Western blot analysis of liver and m uscle tissue obtained from homozygous mutant mice. J:81120 ANKRD3 MGI:1919638 Ankrd3 2 Ankrd3 "targeted mutation 1, Pamela M Holland" All of exons 2 through 7 and a portion of exon 8 were replaced by a neomycin selection cassette inserted via homologous recombination. The deleted region encoded amino acids 62 through 591. J:78593 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth ANKRD3 MGI:1919638 Ankrd3 2 Ankrd3 "targeted mutation 1, Pamela M Holland" All of exons 2 through 7 and a portion of exon 8 were replaced by a neomycin selection cassette inserted via homologous recombination. The deleted region encoded amino acids 62 through 591. J:78593 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" ANKRD3 MGI:1919638 Ankrd3 2 Ankrd3 "targeted mutation 1, Pamela M Holland" All of exons 2 through 7 and a portion of exon 8 were replaced by a neomycin selection cassette inserted via homologous recombination. The deleted region encoded amino acids 62 through 591. J:78593 MGI:2173547 vibrissae: dysmorphology "abnormal appearance, alignment or structure of the vibrissae Example: curly whiskers, tangled whiskers" ANKRD3 MGI:1919638 Ankrd3 2 Ankrd3 "targeted mutation 1, Pamela M Holland" All of exons 2 through 7 and a portion of exon 8 were replaced by a neomycin selection cassette inserted via homologous recombination. The deleted region encoded amino acids 62 through 591. J:78593 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" ANKRD3 MGI:1919638 Ankrd3 2 Ankrd3 "targeted mutation 1, Pamela M Holland" All of exons 2 through 7 and a portion of exon 8 were replaced by a neomycin selection cassette inserted via homologous recombination. The deleted region encoded amino acids 62 through 591. J:78593 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" ANKRD3 MGI:1919638 Ankrd3 2 Ankrd3 "targeted mutation 1, Pamela M Holland" All of exons 2 through 7 and a portion of exon 8 were replaced by a neomycin selection cassette inserted via homologous recombination. The deleted region encoded amino acids 62 through 591. J:78593 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" ANKRD3 MGI:1919638 Ankrd3 2 Ankrd3 "targeted mutation 1, Pamela M Holland" All of exons 2 through 7 and a portion of exon 8 were replaced by a neomycin selection cassette inserted via homologous recombination. The deleted region encoded amino acids 62 through 591. J:78593 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis ANKRD3 MGI:1919638 Ankrd3 2 Ankrd3 "targeted mutation 1, Pamela M Holland" All of exons 2 through 7 and a portion of exon 8 were replaced by a neomycin selection cassette inserted via homologous recombination. The deleted region encoded amino acids 62 through 591. J:78593 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" ANPa MGI:97371 Npr1 6 Npr1 "gene trap mutation 11, Lexicon Genetics Inc" J:46940 ANPa MGI:97371 Npr1 6 Npr1 "targeted mutation 1, Nobuyo Maeda" A genomic fragment containing exon 1 and part of intron 1 was replaced with a neomycin selection cassette. The deleted sequences encode 237 amino acids from the N-terminal region of the corresponding protein. Western blot analysis on kidney membranes de rived from homozygous mice demonstrated that no detectable protein is produced from this allele. J:58344 J:68884 J:71396 J:74420 J:78579 ANPa MGI:97371 Npr1 6 Npr1 "targeted mutation 1, Oliver Smithies" A gap-repair vector was used to induce a tandem duplication of the gene. Guanylate cyclase activity assays demonstrated a correlation of increased activity to gene dosage in heterozygous and homozygous mice. J:46175 J:58344 ANPa MGI:97371 Npr1 6 Npr1 "targeted mutation 1, David L Garbers" "Insertion of a neomycin resistance cassette into exon 4, which encodes part of the extra-cellular putative ligand-binding domain, disrupted the gene. Stable, wild type size transcript was not detected in liver or kidney from homozygous mutant mice." J:30007 J:42893 J:70496 ANPa MGI:97371 Npr1 6 Npr1 "targeted mutation 1, Michaela Kuhn" "Exon 1, which contains the translational start codon, was flanked by an upstream floxed neo cassette and a downstream single loxP site. Quantitative RT-PCR of RNA obtained from aorta and pulmonary artery tissue showed normal levels of transcript in homozy gous mutant mice." J:76460 J:83298 MGI:2173590 heart/cardiovascular system: other functional anomalies altered cardiac or vascular function not due to anatomical defect or blood circulatory or pressure defects\nExample: abnormal heart rate ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173558 musculature: muscle dysmorphology "abnormal development of muscle tissue resulting in morphological abnormality\nExample: hernia, muscle dysplasia" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173559 musculature: physiological defects "loss of or reduced power of voluntary movement in muscle, not due to an anatomical defect\nExample: spasms, paralysis, weakness, muscle degeneration" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173570 neurological/behavioral: fear/anxiety "altered response in tests for fear or anxiety related behaviors\nExample: reduced anxiety, increased exploratory activity, freezing" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" ARAF MGI:88065 Araf 2 Araf "targeted mutation 1, Martin McMahon" "The insertion of a neomycin selection cassette deleted a region encoding the cysteine finger of the CR1 domain, the entire CR2 domain, and the ATP-binding site of the CR3 domain. Western blot analysis of embryonic fibroblasts derived from hemizygous mice indicated an absence of protein encoded by the targeted locis and showed normal levels of protein produced by an adjacent locus." J:33951 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173566 neurological/behavioral: aggression "domineering, assaultive, or forceful physical action\nExample: biting, fighting" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173580 metabolism: other metabolic defect "altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry\nExample: cyanosis altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry\nExample: cyanosis" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173581 metabolism: other metabolic defect "altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry\nExample: cyanosis altered chemical and physical processes of the body or of a tissue, not due to lipid or glucose chemistry\nExample: cyanosis" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ARG MGI:87860 Abl2 2 Abl2 "targted mutation 1, Anthony J Koleske" "The sequences encoding amino acids 287-320, corresponding to the N-terminal portion of the kinase domain, was replaced with a neomycin selection cassette. Western blot analysis demonstrated the absence of the protein in tissue extracts derived from homoz ygous mice." J:51887 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Anthony Wynshaw Boris" "A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans." J:34193 J:44388 J:51058 J:53932 J:55417 J:60230 J:61269 J:62720 J:64217 J:70611 J:73636 J:75737 J:76690 J:79018 J:83201 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, David Baltimore" Part of an exon encoding the kinase-conserved sequence of Atm and the following 3' exon was replaced with a PGK-neomycin cassette. J:35914 J:42324 J:49262 J:79958 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, David Baltimore" Part of an exon encoding the kinase-conserved sequence of Atm and the following 3' exon was replaced with a PGK-neomycin cassette. J:35914 J:42324 J:49262 J:79958 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, David Baltimore" Part of an exon encoding the kinase-conserved sequence of Atm and the following 3' exon was replaced with a PGK-neomycin cassette. J:35914 J:42324 J:49262 J:79958 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." ATM MGI:107202 Atm 7 Atm "targeted mutation 1, David Baltimore" Part of an exon encoding the kinase-conserved sequence of Atm and the following 3' exon was replaced with a PGK-neomycin cassette. J:35914 J:42324 J:49262 J:79958 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, David Baltimore" Part of an exon encoding the kinase-conserved sequence of Atm and the following 3' exon was replaced with a PGK-neomycin cassette. J:35914 J:42324 J:49262 J:79958 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, David Baltimore" Part of an exon encoding the kinase-conserved sequence of Atm and the following 3' exon was replaced with a PGK-neomycin cassette. J:35914 J:42324 J:49262 J:79958 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Philip Leder" A PGK-neomycin cassette was inserted into a coding exon of the mouse Atm gene. The insertion position corresponds to nt 5640 of the human ATM cDNA. J:36561 J:42055 J:45078 J:50708 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Philip Leder" A PGK-neomycin cassette was inserted into a coding exon of the mouse Atm gene. The insertion position corresponds to nt 5640 of the human ATM cDNA. J:36561 J:42055 J:45078 J:50708 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Philip Leder" A PGK-neomycin cassette was inserted into a coding exon of the mouse Atm gene. The insertion position corresponds to nt 5640 of the human ATM cDNA. J:36561 J:42055 J:45078 J:50708 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Philip Leder" A PGK-neomycin cassette was inserted into a coding exon of the mouse Atm gene. The insertion position corresponds to nt 5640 of the human ATM cDNA. J:36561 J:42055 J:45078 J:50708 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Philip Leder" A PGK-neomycin cassette was inserted into a coding exon of the mouse Atm gene. The insertion position corresponds to nt 5640 of the human ATM cDNA. J:36561 J:42055 J:45078 J:50708 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Philip Leder" A PGK-neomycin cassette was inserted into a coding exon of the mouse Atm gene. The insertion position corresponds to nt 5640 of the human ATM cDNA. J:36561 J:42055 J:45078 J:50708 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Philip Leder" A PGK-neomycin cassette was inserted into a coding exon of the mouse Atm gene. The insertion position corresponds to nt 5640 of the human ATM cDNA. J:36561 J:42055 J:45078 J:50708 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Philip Leder" A PGK-neomycin cassette was inserted into a coding exon of the mouse Atm gene. The insertion position corresponds to nt 5640 of the human ATM cDNA. J:36561 J:42055 J:45078 J:50708 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Peter J McKinnon" A neomycin gene interrupts exon 57 and replaces exon 58. This region corresponds to a region deleted in some human AT deficiency cases. J:47752 J:65540 J:71180 J:78491 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Peter J McKinnon" A neomycin gene interrupts exon 57 and replaces exon 58. This region corresponds to a region deleted in some human AT deficiency cases. J:47752 J:65540 J:71180 J:78491 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Frederick W Alt" "Exons 50 - 52 were replaced by a neomycin cassette. RT-PCR anaylsis detected two transcripts. One splices exon 49 to a site within the neomycin gene, resulting in an in-frame stop codon. The second splices exon 49 in-frame to exon 53. However, protein was not detected by western blot in thymus or brain of homozygous mutant mice." J:61201 J:81552 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173628 other aberrant phenotype anomaly or dysmorphology not attributable to any other category Example: ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ATM MGI:107202 Atm 7 Atm "targeted mutation 1, Martin F Lavin" "A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected." J:69726 J:78527 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" ATR MGI:108028 Atr 4 Atr "targeted mutation 1, David Baltimore" A genomic fragment containing the first three exons was replaced with a neomycin resistance cassette. J:60768 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ATR MGI:108028 Atr 4 Atr "targeted mutation 1, David Baltimore" A genomic fragment containing the first three exons was replaced with a neomycin resistance cassette. J:60768 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" ATR MGI:108028 Atr 4 Atr "targeted mutation 1, David Baltimore" A genomic fragment containing the first three exons was replaced with a neomycin resistance cassette. J:60768 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." ATR MGI:108028 Atr 4 Atr "targeted mutation 1, A de Klein" An nls-lacZ gene and thymidine kinase/neomycin resistance cassette was inserted in frame just 5' to the sequences encoding the most highly conserved part of the kinase domain. J:61732 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ATR MGI:108028 Atr 4 Atr "targeted mutation 1, A de Klein" An nls-lacZ gene and thymidine kinase/neomycin resistance cassette was inserted in frame just 5' to the sequences encoding the most highly conserved part of the kinase domain. J:61732 MGI:2173627 tumorigenesis: no altered tumor susceptibility/resistance "average number of tumors in a strain, usually a specific type Example: no tumors detected" ATR MGI:108028 Atr 4 Atr "targeted mutation 2, David Baltimore" LoxP sites were inserted flanking exons encoding essential regions of the kinase domain. An adjacent frt-flanked neomycin and thymidine kinase cassette was removed by Flp-mediated recombination in ES cells prior to the production of mice. J:83042 AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173598 liver/hepatic system: dysmorphology abnormal development of liver resulting in morphological abnormality Example: hypoplastic liver AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" AXL MGI:1347244 Axl 2 Axl "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced a segment of the gene containing exon 9. Western blot analysis on total brain lysates derived from homozygous mice demonstrated that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" BARK1 MGI:87940 Adrbk1 2 Adrbk1 "targeted mutation 1, Marc Caron" "The insertion of a neomycin cassette deleted exons 5 through 8, encoding catalytic subdomain I that contains a portion of an ATP-binding site. The insertion also altered the downstream reading frame. Northern blot analysis of mutant embryos showed a 62% reduction of transcripts in heterozygotes and an absence of transcripts in homozygotes. Western blot analysis showed correlative results." J:36567 J:48681 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation BARK1 MGI:87940 Adrbk1 2 Adrbk1 "targeted mutation 1, Marc Caron" "The insertion of a neomycin cassette deleted exons 5 through 8, encoding catalytic subdomain I that contains a portion of an ATP-binding site. The insertion also altered the downstream reading frame. Northern blot analysis of mutant embryos showed a 62% reduction of transcripts in heterozygotes and an absence of transcripts in homozygotes. Western blot analysis showed correlative results." J:36567 J:48681 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" BARK1 MGI:87940 Adrbk1 2 Adrbk1 "targeted mutation 1, Marc Caron" "The insertion of a neomycin cassette deleted exons 5 through 8, encoding catalytic subdomain I that contains a portion of an ATP-binding site. The insertion also altered the downstream reading frame. Northern blot analysis of mutant embryos showed a 62% reduction of transcripts in heterozygotes and an absence of transcripts in homozygotes. Western blot analysis showed correlative results." J:36567 J:48681 MGI:2173590 heart/cardiovascular system: other functional anomalies altered cardiac or vascular function not due to anatomical defect or blood circulatory or pressure defects\nExample: abnormal heart rate BCR MGI:1918508 Bcr 4 Bcr "targeted mutation 1, Nora Heisterkamp" "Exon 2 was partially replaced by insertion of a neomycin resistance expression cassette. Northern blot analysis with an exon 1 specific probe demonstrated that the transcript was not expressed in brain of homozygous mice, and western blot analysis on bra in extracts showed that no protein was was produced in homozygotes." J:23804 J:47417 J:51186 J:52941 J:72425 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth BCR MGI:1918508 Bcr 4 Bcr "targeted mutation 1, Nora Heisterkamp" "Exon 2 was partially replaced by insertion of a neomycin resistance expression cassette. Northern blot analysis with an exon 1 specific probe demonstrated that the transcript was not expressed in brain of homozygous mice, and western blot analysis on bra in extracts showed that no protein was was produced in homozygotes." J:23804 J:47417 J:51186 J:52941 J:72425 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" BCR MGI:1918508 Bcr 4 Bcr "targeted mutation 1, Nora Heisterkamp" "Exon 2 was partially replaced by insertion of a neomycin resistance expression cassette. Northern blot analysis with an exon 1 specific probe demonstrated that the transcript was not expressed in brain of homozygous mice, and western blot analysis on bra in extracts showed that no protein was was produced in homozygotes." J:23804 J:47417 J:51186 J:52941 J:72425 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" BCR MGI:1918508 Bcr 4 Bcr "targeted mutation 1, Isidro Sanchez-Garcia" A human BCR-ABL cDNA was inserted in frame into exon 1 of the gene. Expression of the fusion gene was demonstrated by RT-PCR. J:42895 BCR MGI:1918508 Bcr 4 Bcr "targeted mutation 2, Isidro Sanchez-Garcia" A hygromycin resistance expression cassette was inserted into exon 1 of the gene. J:42895 BLK MGI:88169 Blk 2 Blk "targeted mutation 1, Alexander Tarakhovsky" "Sequences encoding the essential portion of the kinase domain in exon 8 were replaced with a neomycin resistance gene via homologous recombination. Gene expression was not detected in splenic B-cells from homozygous mutant animals via Northern blot, but R T-PCR analysis detected transcripts containing exons 1-4. However, Western blot using antibodies directed against the N-terminal region of the protein did not detect any translation product from the truncated transcript." J:60221 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 1, Richard R Behringer" "A PGK-neomycin resistance cassette replaced 6.2 kb of sequence including the first two exons, which encode the translation initiation codon, the signal peptide, and ~30% of the extracellular domain." J:30426 J:75326 J:80723 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 1, Richard R Behringer" "A PGK-neomycin resistance cassette replaced 6.2 kb of sequence including the first two exons, which encode the translation initiation codon, the signal peptide, and ~30% of the extracellular domain." J:30426 J:75326 J:80723 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 1, Richard R Behringer" "A PGK-neomycin resistance cassette replaced 6.2 kb of sequence including the first two exons, which encode the translation initiation codon, the signal peptide, and ~30% of the extracellular domain." J:30426 J:75326 J:80723 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 1, Richard R Behringer" "A PGK-neomycin resistance cassette replaced 6.2 kb of sequence including the first two exons, which encode the translation initiation codon, the signal peptide, and ~30% of the extracellular domain." J:30426 J:75326 J:80723 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 1, Richard R Behringer" "A PGK-neomycin resistance cassette replaced 6.2 kb of sequence including the first two exons, which encode the translation initiation codon, the signal peptide, and ~30% of the extracellular domain." J:30426 J:75326 J:80723 MGI:2173550 extremities: digit dysmorphology "abnormal development of the digits resulting in morphological abnormality\nExample: long toes, syndactaly, polydactaly, adactaly, long toenails" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 1, Richard R Behringer" "A PGK-neomycin resistance cassette replaced 6.2 kb of sequence including the first two exons, which encode the translation initiation codon, the signal peptide, and ~30% of the extracellular domain." J:30426 J:75326 J:80723 MGI:2173563 skeletal: extremities defects "abnormal development of limb, foot or tail bones resulting in morphological abnormality Example: absence of radius" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 1, Richard R Behringer" "Homologous recombination introduced a loxP-flanked neomycin resistance cassette into intron 2, and a single loxP site into intron 1." J:73526 J:75074 J:79021 BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 2.1, Richard R Behringer" "Homologous recombination introduced a floxed neomycin resistance cassette into intron 2, and a single loxP site into intron 1. Cre-mediated recombination in vivo under the control of a CMV promoter excised the neo cassette in the germline, leaving single loxP sites flanking exon 2, which encodes roughly a third of the extracellular domain of the receptor within the ligand-binding domain." J:73526 J:75074 J:75084 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 2.1, Richard R Behringer" "Homologous recombination introduced a floxed neomycin resistance cassette into intron 2, and a single loxP site into intron 1. Cre-mediated recombination in vivo under the control of a CMV promoter excised the neo cassette in the germline, leaving single loxP sites flanking exon 2, which encodes roughly a third of the extracellular domain of the receptor within the ligand-binding domain." J:73526 J:75074 J:75084 MGI:2173550 extremities: digit dysmorphology "abnormal development of the digits resulting in morphological abnormality\nExample: long toes, syndactaly, polydactaly, adactaly, long toenails" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 2.1, Richard R Behringer" "Homologous recombination introduced a floxed neomycin resistance cassette into intron 2, and a single loxP site into intron 1. Cre-mediated recombination in vivo under the control of a CMV promoter excised the neo cassette in the germline, leaving single loxP sites flanking exon 2, which encodes roughly a third of the extracellular domain of the receptor within the ligand-binding domain." J:73526 J:75074 J:75084 MGI:2173563 skeletal: extremities defects "abnormal development of limb, foot or tail bones resulting in morphological abnormality Example: absence of radius" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 2.1, Richard R Behringer" "Homologous recombination introduced a floxed neomycin resistance cassette into intron 2, and a single loxP site into intron 1. Cre-mediated recombination in vivo under the control of a CMV promoter excised the neo cassette in the germline, leaving single loxP sites flanking exon 2, which encodes roughly a third of the extracellular domain of the receptor within the ligand-binding domain." J:73526 J:75074 J:75084 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" BMPR1A MGI:1338938 Bmpr1a 5 Bmpr1a "targeted mutation 2.2, Richard R Behringer" "Homologous recombination introduced a floxed neomycin resistance cassette into intron 2, and a single loxP site into intron 1. Cre-mediated recombination in vivo under the control of a CMV promoter excised the neo cassette and exon 2, which encodes roughl y a third of the extracellular domain of the receptor within the ligand-binding domain." J:75074 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation BMPR1B MGI:107191 Bmpr1b 3 Bmpr1b "targeted mutation 1, Karen M Lyons" "A genomic fragment containing the first coding exon was replaced with a neomycin selection cassette. RT-PCR analysis on total embryo RNA from homozygous embryos demonstrated that an aberrant transcript is produced from this allele, but the authors predic t that no functional protein can be produced." J:59282 J:70260 J:82686 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" BMPR1B MGI:107191 Bmpr1b 3 Bmpr1b "targeted mutation 1, Karen M Lyons" "A genomic fragment containing the first coding exon was replaced with a neomycin selection cassette. RT-PCR analysis on total embryo RNA from homozygous embryos demonstrated that an aberrant transcript is produced from this allele, but the authors predic t that no functional protein can be produced." J:59282 J:70260 J:82686 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" BMPR1B MGI:107191 Bmpr1b 3 Bmpr1b "targeted mutation 1, Karen M Lyons" "A genomic fragment containing the first coding exon was replaced with a neomycin selection cassette. RT-PCR analysis on total embryo RNA from homozygous embryos demonstrated that an aberrant transcript is produced from this allele, but the authors predic t that no functional protein can be produced." J:59282 J:70260 J:82686 MGI:2173550 extremities: digit dysmorphology "abnormal development of the digits resulting in morphological abnormality\nExample: long toes, syndactaly, polydactaly, adactaly, long toenails" BMPR1B MGI:107191 Bmpr1b 3 Bmpr1b "targeted mutation 1, Karen M Lyons" "A genomic fragment containing the first coding exon was replaced with a neomycin selection cassette. RT-PCR analysis on total embryo RNA from homozygous embryos demonstrated that an aberrant transcript is produced from this allele, but the authors predic t that no functional protein can be produced." J:59282 J:70260 J:82686 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" BMPR1B MGI:107191 Bmpr1b 3 Bmpr1b "targeted mutation 1, Karen M Lyons" "A genomic fragment containing the first coding exon was replaced with a neomycin selection cassette. RT-PCR analysis on total embryo RNA from homozygous embryos demonstrated that an aberrant transcript is produced from this allele, but the authors predic t that no functional protein can be produced." J:59282 J:70260 J:82686 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" BMPR1B MGI:107191 Bmpr1b 3 Bmpr1b "targeted mutation 1, Karen M Lyons" "A genomic fragment containing the first coding exon was replaced with a neomycin selection cassette. RT-PCR analysis on total embryo RNA from homozygous embryos demonstrated that an aberrant transcript is produced from this allele, but the authors predic t that no functional protein can be produced." J:59282 J:70260 J:82686 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" BMPR1B MGI:107191 Bmpr1b 3 Bmpr1b "targeted mutation 1, Karen M Lyons" "A genomic fragment containing the first coding exon was replaced with a neomycin selection cassette. RT-PCR analysis on total embryo RNA from homozygous embryos demonstrated that an aberrant transcript is produced from this allele, but the authors predic t that no functional protein can be produced." J:59282 J:70260 J:82686 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" BMPR1B MGI:107191 Bmpr1b 3 Bmpr1b "transgene insertion 4917, Susan Dymecki" "A random insertion of a transgene expressing Flp recombinase under the control of a human beta-actin promoter resulted in the mutation. Exon 1 and flanking sequence are deleted and replaced with two head-to-tail copies of the transgene. RT-PCR analysis on olfactory epithelium and limb tissue of homozygous mice revealed that this mutation results in the loss of transcript expression only in the limb. The authors propose that the use of two promoters in the gene can account for the partial loss, and that the mutation affects only one of these promoters." J:59288 J:74965 BMPR2 MGI:1095407 Bmpr2 3 Bmpr2 "targeted mutation 1, Kohei Miyazono" A neomycin selection cassette replaced a genomic fragment containing exons 4 and 5. These sequences encode the transmembrane domain and the amino terminal region of the kinase domain. J:61931 BMPR2 MGI:1095407 Bmpr2 3 Bmpr2 "targeted mutation 1, Karen M Lyons" "A 2.2 kb region of the gene containing exon 2 was deleted and replaced with a PGK-neo cassette via homologous recombination resulting in deletion of half of the extracellular ligand-binding domain. The targeted mutation removes 3 of 7 conserved cysteine r esidues required to maintain the conformation of the extracellular domain, as well as 2 of 5 hydrophobic domains. RT-PCR analysis of RNA from homozygous mutant animals confirmed the presence of stable mutant transcript. Sequence analysis of the RT-PCR pro ducts confirmed that exon 2 was deleted and that exons 1 and 3 were in-frame." J:80024 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation BMPR2 MGI:1095407 Bmpr2 3 Bmpr2 "targeted mutation 1, Karen M Lyons" "A 2.2 kb region of the gene containing exon 2 was deleted and replaced with a PGK-neo cassette via homologous recombination resulting in deletion of half of the extracellular ligand-binding domain. The targeted mutation removes 3 of 7 conserved cysteine r esidues required to maintain the conformation of the extracellular domain, as well as 2 of 5 hydrophobic domains. RT-PCR analysis of RNA from homozygous mutant animals confirmed the presence of stable mutant transcript. Sequence analysis of the RT-PCR pro ducts confirmed that exon 2 was deleted and that exons 1 and 3 were in-frame." J:80024 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" BMPR2 MGI:1095407 Bmpr2 3 Bmpr2 "targeted mutation 1, Karen M Lyons" "A 2.2 kb region of the gene containing exon 2 was deleted and replaced with a PGK-neo cassette via homologous recombination resulting in deletion of half of the extracellular ligand-binding domain. The targeted mutation removes 3 of 7 conserved cysteine r esidues required to maintain the conformation of the extracellular domain, as well as 2 of 5 hydrophobic domains. RT-PCR analysis of RNA from homozygous mutant animals confirmed the presence of stable mutant transcript. Sequence analysis of the RT-PCR pro ducts confirmed that exon 2 was deleted and that exons 1 and 3 were in-frame." J:80024 MGI:2173561 skeletal: osteogenesis/developmental anomalies "abnormal development or remodeling of bone tissue resulting in morphological abnormality\nExample: osteoporosis, osteopetrosis" BMPR2 MGI:1095407 Bmpr2 3 Bmpr2 "targeted mutation 1, Karen M Lyons" "A 2.2 kb region of the gene containing exon 2 was deleted and replaced with a PGK-neo cassette via homologous recombination resulting in deletion of half of the extracellular ligand-binding domain. The targeted mutation removes 3 of 7 conserved cysteine r esidues required to maintain the conformation of the extracellular domain, as well as 2 of 5 hydrophobic domains. RT-PCR analysis of RNA from homozygous mutant animals confirmed the presence of stable mutant transcript. Sequence analysis of the RT-PCR pro ducts confirmed that exon 2 was deleted and that exons 1 and 3 were in-frame." J:80024 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" BMPR2 MGI:1095407 Bmpr2 3 Bmpr2 "targeted mutation 1, Karen M Lyons" "A 2.2 kb region of the gene containing exon 2 was deleted and replaced with a PGK-neo cassette via homologous recombination resulting in deletion of half of the extracellular ligand-binding domain. The targeted mutation removes 3 of 7 conserved cysteine r esidues required to maintain the conformation of the extracellular domain, as well as 2 of 5 hydrophobic domains. RT-PCR analysis of RNA from homozygous mutant animals confirmed the presence of stable mutant transcript. Sequence analysis of the RT-PCR pro ducts confirmed that exon 2 was deleted and that exons 1 and 3 were in-frame." J:80024 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" BMX MGI:1101778 Bmx 2 Bmx "targeted mutation 1, Kari Alitalo" "The gene was disrupted by replacement of exon 2, which contains the translation initiation site, with a lacZ-neo cassette via homologous recombination. Absence of gene expression was confirmed by RT-PCR analysis of bone marrow RNA from homozygous mutant m ice." J:74967 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" BRAF MGI:88190 Braf 2 Braf "targeted mutation 1, Andreas Zimmer" "A neomycin selection cassette was inserted into exon 3, which encodes the N-terminal portion of the Ras-binding domain. Northern blot analysis on RNA derived from E10.5 embryos demonstrated that no detectable transcript is produced from this allele." J:41257 J:61360 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation BRAF MGI:88190 Braf 2 Braf "targeted mutation 1, Andreas Zimmer" "A neomycin selection cassette was inserted into exon 3, which encodes the N-terminal portion of the Ras-binding domain. Northern blot analysis on RNA derived from E10.5 embryos demonstrated that no detectable transcript is produced from this allele." J:41257 J:61360 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" BRAF MGI:88190 Braf 2 Braf "targeted mutation 1, Andreas Zimmer" "A neomycin selection cassette was inserted into exon 3, which encodes the N-terminal portion of the Ras-binding domain. Northern blot analysis on RNA derived from E10.5 embryos demonstrated that no detectable transcript is produced from this allele." J:41257 J:61360 MGI:2173588 heart/cardiovascular system: blood circulatory defects "abnormalities in the flow of blood from the heart to the vasculature and back to the heart\nExample: abnormal vascular permeability, vasoconstriction" BRAF MGI:88190 Braf 2 Braf "targeted mutation 1, Andreas Zimmer" "A neomycin selection cassette was inserted into exon 3, which encodes the N-terminal portion of the Ras-binding domain. Northern blot analysis on RNA derived from E10.5 embryos demonstrated that no detectable transcript is produced from this allele." J:41257 J:61360 MGI:2173590 heart/cardiovascular system: other functional anomalies altered cardiac or vascular function not due to anatomical defect or blood circulatory or pressure defects\nExample: abnormal heart rate BTK MGI:88216 Btk 6 Btk X linked immune deficiency The C to T transition point mutation at position 219 is predicted to change amino acid 28 from an arginine to a cysteine in the encoded protein. J:13209 J:34558 J:44226 J:47277 J:57737 J:59109 J:6296 J:69477 J:76899 J:7981 J:81429 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" BTK MGI:88216 Btk 6 Btk X linked immune deficiency The C to T transition point mutation at position 219 is predicted to change amino acid 28 from an arginine to a cysteine in the encoded protein. J:13209 J:34558 J:44226 J:47277 J:57737 J:59109 J:6296 J:69477 J:76899 J:7981 J:81429 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" BTK MGI:88216 Btk 6 Btk X linked immune deficiency The C to T transition point mutation at position 219 is predicted to change amino acid 28 from an arginine to a cysteine in the encoded protein. J:13209 J:34558 J:44226 J:47277 J:57737 J:59109 J:6296 J:69477 J:76899 J:7981 J:81429 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" BTK MGI:88216 Btk 6 Btk X linked immune deficiency The C to T transition point mutation at position 219 is predicted to change amino acid 28 from an arginine to a cysteine in the encoded protein. J:13209 J:34558 J:44226 J:47277 J:57737 J:59109 J:6296 J:69477 J:76899 J:7981 J:81429 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" BTK MGI:88216 Btk 6 Btk X linked immune deficiency The C to T transition point mutation at position 219 is predicted to change amino acid 28 from an arginine to a cysteine in the encoded protein. J:13209 J:34558 J:44226 J:47277 J:57737 J:59109 J:6296 J:69477 J:76899 J:7981 J:81429 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" BTK MGI:88216 Btk 6 Btk X linked immune deficiency The C to T transition point mutation at position 219 is predicted to change amino acid 28 from an arginine to a cysteine in the encoded protein. J:13209 J:34558 J:44226 J:47277 J:57737 J:59109 J:6296 J:69477 J:76899 J:7981 J:81429 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" BTK MGI:88216 Btk 6 Btk X linked immune deficiency The C to T transition point mutation at position 219 is predicted to change amino acid 28 from an arginine to a cysteine in the encoded protein. J:13209 J:34558 J:44226 J:47277 J:57737 J:59109 J:6296 J:69477 J:76899 J:7981 J:81429 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Wasif Kahn" A genomic fragment containing the first two coding exons was replaced with a neomycin resistance cassette. These sequences encode 80 amino acids of the pleckstrin homology domain. J:28968 J:50288 J:66080 J:70406 J:74306 J:82298 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" BTK MGI:88216 Btk 6 Btk "targeted mutation 2, Wasif Kahn" A genomic fragment containing exons 13 and 14 was replaced with a neomycin resistance cassette. These sequences encode the beginning of the kinase domain. J:28968 BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Roger M Perlmutter" "Exons 3 and 4 were replaced with a neomycin gene via homologous recombination deleting all of subdomain 5 and most of subdomain 6. The mutant splice product results in a frameshift, which produces a stop codon in exon 5. RT-PCR analysis confirmed the muta nt transcript in B cells of mutant male animals." J:28967 BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Frank Grosveld" "A vector was constructed that contained an in-frame fusion of 1.5 kb 5' genomic sequences of the targeted gene (up to exon 8) to the nuclear localization signal (nls) of the SV40 T antigen and the E. coli lacZ gene. The vector also contained a thymidine kinase gene for negative selection, a neomycin resistance gene for positive selection, and 8 kb of 3' homology to the targeted gene. After homologous recombination in ES cells, only exons 1 - 7 of the targeted gene were intact and were fused to the lacZ reporter. Western blots of total cell lysates from spleen cells and from thymocytes showed no detectable protein for the targeted gene in hemizygous mutant male mice." J:35769 J:75327 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Frank Grosveld" "A vector was constructed that contained an in-frame fusion of 1.5 kb 5' genomic sequences of the targeted gene (up to exon 8) to the nuclear localization signal (nls) of the SV40 T antigen and the E. coli lacZ gene. The vector also contained a thymidine kinase gene for negative selection, a neomycin resistance gene for positive selection, and 8 kb of 3' homology to the targeted gene. After homologous recombination in ES cells, only exons 1 - 7 of the targeted gene were intact and were fused to the lacZ reporter. Western blots of total cell lysates from spleen cells and from thymocytes showed no detectable protein for the targeted gene in hemizygous mutant male mice." J:35769 J:75327 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Frank Grosveld" "A vector was constructed that contained an in-frame fusion of 1.5 kb 5' genomic sequences of the targeted gene (up to exon 8) to the nuclear localization signal (nls) of the SV40 T antigen and the E. coli lacZ gene. The vector also contained a thymidine kinase gene for negative selection, a neomycin resistance gene for positive selection, and 8 kb of 3' homology to the targeted gene. After homologous recombination in ES cells, only exons 1 - 7 of the targeted gene were intact and were fused to the lacZ reporter. Western blots of total cell lysates from spleen cells and from thymocytes showed no detectable protein for the targeted gene in hemizygous mutant male mice." J:35769 J:75327 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" BTK MGI:88216 Btk 6 Btk "targeted mutation 1, Frank Grosveld" "A vector was constructed that contained an in-frame fusion of 1.5 kb 5' genomic sequences of the targeted gene (up to exon 8) to the nuclear localization signal (nls) of the SV40 T antigen and the E. coli lacZ gene. The vector also contained a thymidine kinase gene for negative selection, a neomycin resistance gene for positive selection, and 8 kb of 3' homology to the targeted gene. After homologous recombination in ES cells, only exons 1 - 7 of the targeted gene were intact and were fused to the lacZ reporter. Western blots of total cell lysates from spleen cells and from thymocytes showed no detectable protein for the targeted gene in hemizygous mutant male mice." J:35769 J:75327 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" CaMK1a MGI:1097693 Ogg1 4 Ogg1 "targeted mutation 1, Tetsuo Noda" Half of exon 2 and the entire exon 3 were replaced with a PGK-neo cassette via homologous recombination. Gene expression and enzyme activity is absent in liver extracts from homozygous mutant animals as shown by Northern blot analysis and enzyme assay. J:61684 CaMK1a MGI:1097693 Ogg1 4 Ogg1 "targeted mutation 1, Tomas Lindahl" Sequences encoding the highly conserved helix-hairpin-helix motif required for enzyme activity were replaced by a neomycin selection cassette. J:58517 J:70393 J:71458 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" CaMK1a MGI:1097693 Ogg1 4 Ogg1 "targeted mutation 1, Kunihiko Sakumi" The gene was disrupted by replacement of a 3.1 kb genomic region encompassing exons 1-3 with a neomycin resistance cassette. RT-PCR analysis of liver RNA confirmed the absence of gene expression in homozygous mutant animals. J:82287 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." CaMK1a MGI:1097693 Ogg1 4 Ogg1 "targeted mutation 1, Kunihiko Sakumi" The gene was disrupted by replacement of a 3.1 kb genomic region encompassing exons 1-3 with a neomycin resistance cassette. RT-PCR analysis of liver RNA confirmed the absence of gene expression in homozygous mutant animals. J:82287 MGI:2173627 tumorigenesis: no altered tumor susceptibility/resistance "average number of tumors in a strain, usually a specific type Example: no tumors detected" CaMK2a MGI:88256 Camk2a 8 Camk2a "targeted mutation 1, Alcino Silva" A 130 bp DNA segment encoding the inhibitory domain and five amino acids of the calmodulin-binding domain was replaced with a neomycin selection cassette. Northern blot analysis on brain RNA derived from homozygous mice confirmed that no detectable trans cript is produced from this allele. Western blot analysis on forebrain samples from homozygous mice demonstrated that no detectable protein is expressed from this allele. J:1421 J:1422 J:15040 J:20972 J:78836 CaMK2a MGI:88256 Camk2a 8 Camk2a "targeted mutation 2, Alcino Silva" Point mutations were introduced into the gene that altered codon 286 from one encoding threonine to one encoding alanine. This mutation had been shown in vitro to eliminate autophosphorylation at this site and result in the elimination of calcium-calmodu lin independent activity without affecting calcium-calmodulin dependent activity. An adjacent loxP-flanked neomycin cassette was removed by transient Cre mediated recombination in ES cells prior to the production of chimeric mice. Western blot and immun ohistochemistry experiments on homozygous mice confirmed that a stable mutant protein was produced from this allele. J:45750 J:45751 J:64187 J:79715 CaMK2a MGI:88256 Camk2a 8 Camk2a "targeted mutation 4, Alcino Silva" The endogenous sequence encoding threonine residues at positions 305 and 306 was modified to encode valine and alanine by homologous recombination of a site directed mutagenized construct. The replacement of the threonine residues with nonphosphorylatable amino acids was designed to inhibit autophosphorylation of the targeted residues. Western blot analysis of homozygous mutant mice showed that normal sized protein was present at a level approximately two fold lower than that observed in wild type mice. F urther analysis using antibodies directed against phosphorylated threonine residues 305 and 286 showed immunoreactivity for only the latter. A single loxP site was left within the locus. J:79714 CaMK2a MGI:88256 Camk2a 8 Camk2a "targeted mutation 3, Alcino Silva" Exon 2 was flanked by loxP sites and excised in vitro by the transient expression of cre recombinase. The deletion of exon 2 results in a frameshift mutation affecting sequence downstream of exon 1. An absence of normal protein in homozygous mutant mice w as confirmed by Western blot analysis. J:79714 CaMK2a MGI:88256 Camk2a 8 Camk2a "targeted mutation 5, Alcino Silva" Sequence encoding threonine 305 was targeted by homologous recombination of a construct containing an engineered arginine substitution mutation. The replacement of the this threonine residue with the negatively charged argnine was designed to interfere wi th calcium/calmodulin binding. Western blot analysis confirmed the expression of a normal sized protein. A single loxP site was left within the locus. J:79714 CaMK2a MGI:88256 Camk2a 8 Camk2a "targeted mutation 1, Stephan Miller" The endogenous 3' UTR was replaced with a bovine growth hormone 3' UTR. The bovine sequence contains an identical polyadenylation hexanucleotide but lacks a dendritic localization signal. In situ hybridization of mutant brain sections indicated that dendr itic loczalization was disrupted. Quantification of the hybridization results showed reduced expression levels in hippocampal cell bodies (approximately 85.3% of wild type). J:79713 CaMK2a MGI:88256 Camk2a 8 Camk2a "targeted mutation 1, Vadim Y Bolshakov" A loxP site was introduced into intron 1 and an frt/loxP-flanked neo cassette was introduced to intron 2 via homologous recombination. The neo cassette was removed by transient expression of flp recombinase in correctly targeted ES cells. Resulting mutant mice carry a floxed exon 2 allele. J:82744 MGI:2173615 central nervous system: other functional anomalies "altered brain or spinal cord function not due to LTP or anatomical defect Example: reduced synaptic currents, increased dopaminergic levels" CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Talal A Chatila" "The replacement of the third exon, which encodes the ATP binding site in the catalytic domain of the kinase, with a neomycin resistance gene rendered the enzyme catalytically inactive and prone to degradation." J:64210 J:72562 J:72830 CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Anthony R Means" A genomic fragment containing the first two exons was replaced with a neomycin selection cassette. Western blot analysis on brain extracts derived from homozygous mice demonstrated that no detectable protein is produced from this allele. J:66075 J:70431 J:70570 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Anthony R Means" A genomic fragment containing the first two exons was replaced with a neomycin selection cassette. Western blot analysis on brain extracts derived from homozygous mice demonstrated that no detectable protein is produced from this allele. J:66075 J:70431 J:70570 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Anthony R Means" A genomic fragment containing the first two exons was replaced with a neomycin selection cassette. Western blot analysis on brain extracts derived from homozygous mice demonstrated that no detectable protein is produced from this allele. J:66075 J:70431 J:70570 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Anthony R Means" A genomic fragment containing the first two exons was replaced with a neomycin selection cassette. Western blot analysis on brain extracts derived from homozygous mice demonstrated that no detectable protein is produced from this allele. J:66075 J:70431 J:70570 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Anthony R Means" A genomic fragment containing the first two exons was replaced with a neomycin selection cassette. Western blot analysis on brain extracts derived from homozygous mice demonstrated that no detectable protein is produced from this allele. J:66075 J:70431 J:70570 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Anthony R Means" A genomic fragment containing the first two exons was replaced with a neomycin selection cassette. Western blot analysis on brain extracts derived from homozygous mice demonstrated that no detectable protein is produced from this allele. J:66075 J:70431 J:70570 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Anthony R Means" A genomic fragment containing the first two exons was replaced with a neomycin selection cassette. Western blot analysis on brain extracts derived from homozygous mice demonstrated that no detectable protein is produced from this allele. J:66075 J:70431 J:70570 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 1, Gunther Schutz" "A single loxP site was introduced upstream of exon 3 and a loxP site followed by an frt-flanked neomycin and thymidine kinase selection cassette was inserted 3' to exon 3. The selection cassette was removed in ES cells by transient FLPe recombinase expre ssion prior to the production of chimeric mice, leaving loxP sites flanking exon 3 in the final allele." J:75112 CaMK4 MGI:88258 Camk4 5 Camk4 "targeted mutation 2, Anthony R Means" The calspermin proximal promoter and testis-specific exon were replaced with a floxed TK-neo cassette via homologous recombination. Transient expression of cre recombinase in correctly targeted ES cells removed the selection cassette leaving behind a sing le loxP site. The gene targeting strategy is designed to specifically delete calspermin expression but not Camk4 kinase expression. Northern blot of testis RNA confirmed the absence of calspermin transcript. Northern blot of testis and thymus RNA showed t hat Camk4 kinase expression was unaffected. J:70856 CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173540 coat: hair texture defects "irregular or unusual appearance of the structure of the hair\nExample: waved hair, mottled fur, shiny fur" CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" CASK MGI:1309489 Cask 2 Cask "transgene insertion 1, Joanna B Wilson" "A transgene containing the BNLF-1 gene of the Epstein Barr Virus inserted into an intron of the Cask gene. The intron separates the exons encoding the calmodulin binding domain, a domain common to both isoforms of this gene. The open reading frame was u naffected by the introduction, allowing for the possibility of a hybrid protein. It is unknown whether the resulting phenotype results from a gain of function or loss of function mutation." J:10591 J:18214 J:50453 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" CDC7 MGI:1309511 Cdc7l1 2 Cdc7l1 "targeted mutation 1, Hisao Masai" Exons 3 and 4 encoding kinase domains I and II were replaced with a neomycin resistance cassette via homologous recombination. Western blot analysis of heterozygous ES cells did not detect aberrant protein products. Genotype analysis detected homozygous m utant embryos up to E6.5. J:76497 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation CDC7 MGI:1309511 Cdc7l1 2 Cdc7l1 "targeted mutation 1, Hisao Masai" Exons 3 and 4 encoding kinase domains I and II were replaced with a neomycin resistance cassette via homologous recombination. Western blot analysis of heterozygous ES cells did not detect aberrant protein products. Genotype analysis detected homozygous m utant embryos up to E6.5. J:76497 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2173579 metabolism: abnormal glucose homeostasis "abnormal glucose processing and utilization\nExample: hyperglycemia, hypoglycemia" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Hiroaki Kiyokawa" A neomycin cassette replaced a 3' portion of exon 1 and all of exons 2 - 5. Western blot analysis on extracts derived from fibroblasts of homozygous mice detected no encoded protein. J:57854 J:74976 J:78338 J:78458 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173574 neurological/behavioral: feeding/drinking anomalies "inability to eat or drink, or unusual choice or avoidance of foods or drink Example: adipsia, aphagia" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173579 metabolism: abnormal glucose homeostasis "abnormal glucose processing and utilization\nExample: hyperglycemia, hypoglycemia" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173596 kidney/renal system: functional anomalies "altered ability or inability to excrete urine, not due to anatomical defect Example: hydronephrosis, nephritis" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173624 glands: functional anomalies "altered glandular secretion not due to anatomical defect Example: elevated serum levels of ACTH, hypersecretion of cortisol" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1, Mariano Barbacid" "A loxP-flanked neomycin resistance cassette was inserted between exons 1 and 2. In addition, the AAGCCCGA sequence in exon 2 (nt 81-88) was replaced by AAGCTTGT. This alters codon 24 from one corresponding to arginine to a cysteine. A third silent subst itution at position nt85 was used to create a diagnostic restriction enzyme site to monitor the presence of the mutation. RT-PCR analysis revealed that no transcript was produced from this allele in testis, ovaries or pancreas. Western blot analysis dem onstrated that no protein was detectable in fibroblasts isolated from E14.5 homozygous embryos." J:54534 J:73034 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1.1, Mariano Barbacid" This allele is a derivative of Cdk4 in which the neomycin resistance cassette was deleted via Cre-mediated recombination in the germ line. These mice express comparable levels of mutant protein to wild type levels. J:54534 J:72579 J:73034 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1.1, Mariano Barbacid" This allele is a derivative of Cdk4 in which the neomycin resistance cassette was deleted via Cre-mediated recombination in the germ line. These mice express comparable levels of mutant protein to wild type levels. J:54534 J:72579 J:73034 MGI:2173582 metabolism: no defect detected no anomaly observed in examination of metabolic function\nExample: normal metabolic levels CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1.1, Mariano Barbacid" This allele is a derivative of Cdk4 in which the neomycin resistance cassette was deleted via Cre-mediated recombination in the germ line. These mice express comparable levels of mutant protein to wild type levels. J:54534 J:72579 J:73034 MGI:2173622 reproductive system: no defect detected "no anomaly observed in examination of reproductive system tissues or function Example: normal testes, normal ovaries" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1.1, Mariano Barbacid" This allele is a derivative of Cdk4 in which the neomycin resistance cassette was deleted via Cre-mediated recombination in the germ line. These mice express comparable levels of mutant protein to wild type levels. J:54534 J:72579 J:73034 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1.1, Mariano Barbacid" This allele is a derivative of Cdk4 in which the neomycin resistance cassette was deleted via Cre-mediated recombination in the germ line. These mice express comparable levels of mutant protein to wild type levels. J:54534 J:72579 J:73034 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1.1, Mariano Barbacid" This allele is a derivative of Cdk4 in which the neomycin resistance cassette was deleted via Cre-mediated recombination in the germ line. These mice express comparable levels of mutant protein to wild type levels. J:54534 J:72579 J:73034 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK4 MGI:88357 Cdk4 4 Cdk4 "targeted mutation 1.1, Mariano Barbacid" This allele is a derivative of Cdk4 in which the neomycin resistance cassette was deleted via Cre-mediated recombination in the germ line. These mice express comparable levels of mutant protein to wild type levels. J:54534 J:72579 J:73034 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CDK5 MGI:101765 Cdk5 2 Cdk5 "targeted mutation 1, Ashok B Kulkarni" "Replacement of part of exon III, exons IV and V with a neomycin cassette." J:49501 J:56295 J:64289 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth CDK5 MGI:101765 Cdk5 2 Cdk5 "targeted mutation 1, Ashok B Kulkarni" "Replacement of part of exon III, exons IV and V with a neomycin cassette." J:49501 J:56295 J:64289 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" CDK5 MGI:101765 Cdk5 2 Cdk5 "targeted mutation 1, Ashok B Kulkarni" "Replacement of part of exon III, exons IV and V with a neomycin cassette." J:49501 J:56295 J:64289 MGI:2173588 heart/cardiovascular system: blood circulatory defects "abnormalities in the flow of blood from the heart to the vasculature and back to the heart\nExample: abnormal vascular permeability, vasoconstriction" CDK5 MGI:101765 Cdk5 2 Cdk5 "targeted mutation 1, Ashok B Kulkarni" "Replacement of part of exon III, exons IV and V with a neomycin cassette." J:49501 J:56295 J:64289 MGI:2173593 respiratory system: respiratory distress or failure/functional anomalies "inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment\nExample: gasping, irregular breathing, apnea" CDK5 MGI:101765 Cdk5 2 Cdk5 "targeted mutation 1, Ashok B Kulkarni" "Replacement of part of exon III, exons IV and V with a neomycin cassette." J:49501 J:56295 J:64289 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" CHK1 MGI:1202065 Chek1 3 Chek1 "targeted mutation 1, Stephen J Elledge" "Replacement of 3kb of the gene encoding the translation start site, the ""GxGxxG"" ATP-binding motif and half of the kinase domain with a neomycin gene." J:62919 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation CHK1 MGI:1202065 Chek1 3 Chek1 "targeted mutation 1, Stephen J Elledge" "Replacement of 3kb of the gene encoding the translation start site, the ""GxGxxG"" ATP-binding motif and half of the kinase domain with a neomycin gene." J:62919 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" CHK1 MGI:1202065 Chek1 3 Chek1 "targeted mutation 1, Makoto Nakanishi" Replacement of a 2.5kb region containing exons 1 and 2 with a neomycin cassette. The translation initiation site and the sequences encoding the ATP-binding region of the kinase are deleted. J:62918 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation CHK2 MGI:1355321 Chek2 2 Chek2 "targeted mutation 1, Tak Mak" Exons 8 through 11 were replaced with a neomycin selection cassette inserted via homologous recombination. Protein was undetected in homozygous mutant mice via Western blot analysis of various tissues. J:78491 CK2a2 MGI:88547 Csnk2a2 2 Csnk2a2 "targeted mutation 1, David C Seldin" "A 2.5kb region, containing the promoter region and exons 1 and 2, was replaced by a neomycin selection cassette. The deleted region encoded the start codon and the ATP-binding domain. Northern and Western blot analyses of testicular tissue showed a lack o f transcript and protein in homozygous mutant mice." J:57312 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" CK2a2 MGI:88547 Csnk2a2 2 Csnk2a2 "targeted mutation 1, David C Seldin" "A 2.5kb region, containing the promoter region and exons 1 and 2, was replaced by a neomycin selection cassette. The deleted region encoded the start codon and the ATP-binding domain. Northern and Western blot analyses of testicular tissue showed a lack o f transcript and protein in homozygous mutant mice." J:57312 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CK2a2 MGI:88547 Csnk2a2 2 Csnk2a2 "targeted mutation 1, David C Seldin" "A 2.5kb region, containing the promoter region and exons 1 and 2, was replaced by a neomycin selection cassette. The deleted region encoded the start codon and the ATP-binding domain. Northern and Western blot analyses of testicular tissue showed a lack o f transcript and protein in homozygous mutant mice." J:57312 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" CK2a2 MGI:88547 Csnk2a2 2 Csnk2a2 "targeted mutation 1, David C Seldin" "A 2.5kb region, containing the promoter region and exons 1 and 2, was replaced by a neomycin selection cassette. The deleted region encoded the start codon and the ATP-binding domain. Northern and Western blot analyses of testicular tissue showed a lack o f transcript and protein in homozygous mutant mice." J:57312 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" COT MGI:1346878 Map3k8 2 Map3k8 "targeted mutation 1, Jeffrey D Ceci" Sequence extending from within exon 3 to within exon 5 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded a portion of the catalytic domain including ATP binding site and the activation loop. Tra nscript was detected by Northern blot analysis of homozygous mutant splenocytes. J:66503 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" COT MGI:1346878 Map3k8 2 Map3k8 "targeted mutation 1, Jeffrey D Ceci" Sequence extending from within exon 3 to within exon 5 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded a portion of the catalytic domain including ATP binding site and the activation loop. Tra nscript was detected by Northern blot analysis of homozygous mutant splenocytes. J:66503 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" COT MGI:1346878 Map3k8 2 Map3k8 "targeted mutation 1, Jeffrey D Ceci" Sequence extending from within exon 3 to within exon 5 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded a portion of the catalytic domain including ATP binding site and the activation loop. Tra nscript was detected by Northern blot analysis of homozygous mutant splenocytes. J:66503 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" COT MGI:1346878 Map3k8 2 Map3k8 "targeted mutation 1, Jeffrey D Ceci" Sequence extending from within exon 3 to within exon 5 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded a portion of the catalytic domain including ATP binding site and the activation loop. Tra nscript was detected by Northern blot analysis of homozygous mutant splenocytes. J:66503 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" CRIK MGI:105313 Cit 2 Cit "targeted mutation 1, Ferdinando Di Cunto" "Exon 2 of the endogenous locus was replaced with a cassette containing Beta-gal and neo genes, resulting in an isoform-specific mutation. Exon 2 is the second coding exon of the Citron-K isoform and is far upstream of the Citron-N trascriptional start sit e. Western blot analysis of cerebral, splenic, and thymic tissues inidicated an absence of the Citron-K isoform and showed normal levels of the Citron-N isoform in homozygous mutant mice." J:77297 J:80899 CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Philippe Soriano" Deletion of all coding sequences and replacement with a neomycin cassette. J:12622 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Philippe Soriano" Deletion of all coding sequences and replacement with a neomycin cassette. J:12622 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Philippe Soriano" Deletion of all coding sequences and replacement with a neomycin cassette. J:12622 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Philippe Soriano" Deletion of all coding sequences and replacement with a neomycin cassette. J:12622 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Philippe Soriano" Deletion of all coding sequences and replacement with a neomycin cassette. J:12622 MGI:2173588 heart/cardiovascular system: blood circulatory defects "abnormalities in the flow of blood from the heart to the vasculature and back to the heart\nExample: abnormal vascular permeability, vasoconstriction" CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Philippe Soriano" Deletion of all coding sequences and replacement with a neomycin cassette. J:12622 MGI:2173611 central nervous system: neural tube defects abnormal development of the embryonic neural tube resulting in morphological abnormality Example: spina bifida CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Shinichi Aizawa" A lacZ/neomycin gene fusion was inserted into an exon encoding the kinase domain. This allele expresses a fusion protein of the N-terminal region to beta-galactosidase. J:12623 J:23050 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Shinichi Aizawa" A lacZ/neomycin gene fusion was inserted into an exon encoding the kinase domain. This allele expresses a fusion protein of the N-terminal region to beta-galactosidase. J:12623 J:23050 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Shinichi Aizawa" A lacZ/neomycin gene fusion was inserted into an exon encoding the kinase domain. This allele expresses a fusion protein of the N-terminal region to beta-galactosidase. J:12623 J:23050 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Shinichi Aizawa" A lacZ/neomycin gene fusion was inserted into an exon encoding the kinase domain. This allele expresses a fusion protein of the N-terminal region to beta-galactosidase. J:12623 J:23050 MGI:2173537 eye: corneal or lens defect complete or partial opacity of the lens or cornea\nExample: cataract CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Shinichi Aizawa" A lacZ/neomycin gene fusion was inserted into an exon encoding the kinase domain. This allele expresses a fusion protein of the N-terminal region to beta-galactosidase. J:12623 J:23050 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" CSK MGI:88537 Csk 4 Csk "targeted mutation 1, Shinichi Aizawa" A lacZ/neomycin gene fusion was inserted into an exon encoding the kinase domain. This allele expresses a fusion protein of the N-terminal region to beta-galactosidase. J:12623 J:23050 MGI:2173611 central nervous system: neural tube defects abnormal development of the embryonic neural tube resulting in morphological abnormality Example: spina bifida CSK MGI:88537 Csk 4 Csk "targeted mutation 2, Shinichi Aizawa" Deletion of the sequences encoding the translational initiation codon and replacement with a LacZ-neomycin gene fusion. J:12623 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation CSK MGI:88537 Csk 4 Csk "targeted mutation 2, Shinichi Aizawa" Deletion of the sequences encoding the translational initiation codon and replacement with a LacZ-neomycin gene fusion. J:12623 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" CSK MGI:88537 Csk 4 Csk "targeted mutation 2, Shinichi Aizawa" Deletion of the sequences encoding the translational initiation codon and replacement with a LacZ-neomycin gene fusion. J:12623 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" CSK MGI:88537 Csk 4 Csk "targeted mutation 2, Shinichi Aizawa" Deletion of the sequences encoding the translational initiation codon and replacement with a LacZ-neomycin gene fusion. J:12623 MGI:2173537 eye: corneal or lens defect complete or partial opacity of the lens or cornea\nExample: cataract CSK MGI:88537 Csk 4 Csk "targeted mutation 2, Shinichi Aizawa" Deletion of the sequences encoding the translational initiation codon and replacement with a LacZ-neomycin gene fusion. J:12623 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" CSK MGI:88537 Csk 4 Csk "targeted mutation 2, Shinichi Aizawa" Deletion of the sequences encoding the translational initiation codon and replacement with a LacZ-neomycin gene fusion. J:12623 MGI:2173611 central nervous system: neural tube defects abnormal development of the embryonic neural tube resulting in morphological abnormality Example: spina bifida CYGD MGI:105123 Gucy2e 2 Gucy2e "targeted mutation 1, David L Garbers" A neomycin selection cassette replaced the 3' portion of exon 5 encoding the transmembrane domain. Western blot analysis of protein extracts obtained from eyecups showed an absence of encoded protein in homozygous mice. J:77627 DDR1 MGI:99216 Ddr1 2 Ddr1 "targeted mutation 1, Wolfgang F Vogel" Exon 1-12 were deleted and replaced with a neomycin resistance gene via homologous recombination. Absence of gene expression in homozgyous mutant animals was confirmed by Western blot analysis of embryonic protein extracts. J:68368 DDR2 MGI:1345277 Ddr2 2 Ddr2 "targeted mutation 1, Rudiger Klein" The exon encoding the ATP binding region of the kinase domain was replaced by a neo cassette inserted by homologous recombination. The absence of normal trancsript and normal protein was confirmed by Northern and Western blot analyses. In vitro studies sh owed normal proliferation of fibroblasts derived from homozygous mutant mice after infection with a retrovirus containing the wild type cDNA. J:74580 DMPK1 MGI:94906 Dm15 2 Dm15 "targeted mutation 1, Sita Reddy" "The insertion of a neomycin selection cassette deleted the 5' untranslated region and exons 1 through 7, encoding the ATP-binding site and serine threonine consensus sequence. Northern blot analysis of total RNA obtained from heart tissue showed an absenc e of transcript in homozygous mutant mice. The absence of encoded protein was verified by Western blot analysis of muscle and heart tissue obtained from homozygous mutant mice." J:33714 J:53077 J:82608 DNAPK MGI:104779 Prkdc 4 Prkdc severe combined immunodeficiency A T-to-A transversion point mutation at a position corresponding to codon 4095 created a premature stop codon. J:24311 J:31690 J:35055 J:35350 J:35393 J:46553 J:47667 J:513 J:54135 J:6958 J:737 J:73720 J:75374 J:81287 J:81416 J:82106 J:83195 J:83373 DNAPK MGI:104779 Prkdc 4 Prkdc "targeted mutation 1, Gloria C Li" Half of exon 3 and part of intron 3 was replaced with a PGK-neo cassette via homologous recombination. RT-PCR showed deletion of exons 1-4 in homozygous mutant animals and Western blot failed to detect protein product. In vitro kinase assay of fibroblasts from homozygous mutant animals was negative for kinase activity. J:53765 DNAPK MGI:104779 Prkdc 4 Prkdc "targeted mutation 1, Guillermo E Taccioli" "The insertion of a neomycin selection cassette replaced 1 Kb of sequence spanning two exons encoding amino acids 3860 through 3950. While RT-PCR analysis revealed the presence of truncated transcript in homozygous mutant mice, protein was undetected via W estern blot analysis of thymic tissue. A kinase activity assay indicated functional ablation in homozygous mutant mice." J:50222 DYRK1A MGI:1330299 Dyrk1a 2 Dyrk1a "targeted mutation 1, Maria L Arbones" "3.2 kb of sequence encompassing all of exon 7 and most of exon 8 was replaced by a neomycin selection cassette inserted by homologous recombination. The deleted region encoded 112 amino acids involved in the bipartite nuclear localization signal, an aspar tate rich consensus sequence putatively involved in the regulation of kinase activity, and the first three subdomains of the catalytic domain pertinent to ATP binding activity. Sequence analysis of an RT-PCR amplification product showed an aberrant transc ript in which exon 6 spliced to exon 9. Both Western blot analysis and in situ hybridization indicated that a stable protein was not produced from the aberrant transcript." J:78597 EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173537 eye: corneal or lens defect complete or partial opacity of the lens or cornea\nExample: cataract EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173539 coat: hair growth defects "absence of hair or abnormal onset of hair growth cycle or development\nExample: loss of hair (alopecia), abnormal hair growth cycle" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173540 coat: hair texture defects "irregular or unusual appearance of the structure of the hair\nExample: waved hair, mottled fur, shiny fur" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173542 coat: hair follicle structure/orientation anomalies malformation or misalignment of the epidermis from which the hair shaft develops\nExample: absent hair follicles EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173547 vibrissae: dysmorphology "abnormal appearance, alignment or structure of the vibrissae Example: curly whiskers, tangled whiskers" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173558 musculature: muscle dysmorphology "abnormal development of muscle tissue resulting in morphological abnormality\nExample: hernia, muscle dysplasia" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173573 neurological/behavioral: maternal behavior anomalies "altered parental behavior\nExample: cannibalism, nurturing defect" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173588 heart/cardiovascular system: blood circulatory defects "abnormalities in the flow of blood from the heart to the vasculature and back to the heart\nExample: abnormal vascular permeability, vasoconstriction" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173589 heart/cardiovascular system: blood pressure anomalies "altered tension of the blood within the systemic arteries\nExample: high blood pressure, hypertension" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173590 heart/cardiovascular system: other functional anomalies altered cardiac or vascular function not due to anatomical defect or blood circulatory or pressure defects\nExample: abnormal heart rate EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173593 respiratory system: respiratory distress or failure/functional anomalies "inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment\nExample: gasping, irregular breathing, apnea" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173594 respiratory system: no defect detected no anomaly observed in examination of lung and other respiratory tissues\nExample: normal lungs EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173597 kidney/renal system: no defect detected no anomaly observed in examination of kidney Example: normal kidney EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173600 liver/hepatic system: no defect detected no anomaly observed in examination of liver or other hepatic tissues Example: normal liver EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173603 digestive system: no defect detected no anomaly observed in the function of or in any region of the digestive system Example: normal digestive system EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173616 central nervous system: no defect detected no anomaly observed in examination of central nervous system tissues or function Example: normal CNS EGFR MGI:95294 Egfr 8 Egfr waved 2 A T-to-G transversion mutation in the sequences encoding the tyrosine kinase domain is predicted to result in a substitution of a glycine for a highly conserved valine at position 743 in the third kinase subdomain. J:13052 J:15329 J:16986 J:23326 J:5260 J:60750 J:63426 J:74510 J:75413 J:81301 MGI:2173628 other aberrant phenotype anomaly or dysmorphology not attributable to any other category Example: EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173540 coat: hair texture defects "irregular or unusual appearance of the structure of the hair\nExample: waved hair, mottled fur, shiny fur" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173542 coat: hair follicle structure/orientation anomalies malformation or misalignment of the epidermis from which the hair shaft develops\nExample: absent hair follicles EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173547 vibrissae: dysmorphology "abnormal appearance, alignment or structure of the vibrissae Example: curly whiskers, tangled whiskers" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173598 liver/hepatic system: dysmorphology abnormal development of liver resulting in morphological abnormality Example: hypoplastic liver EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Terry Magnuson" "A neomycin resistance cassette replaced 155 bp containing part of exon 2. Aberrant splicing of the targeted exon was detected joining exon 1 to either exon 3 or exon 5. The former splicing event creates a nonsense protein. Although the latter splicing e vent produes a truncated mRNA, no protein or phosphorylation activity was detectable." J:26833 J:40807 J:60750 J:66900 J:74312 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" EGFR MGI:95294 Egfr 8 Egfr waved 2 4 Jackson J:30778 EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173537 eye: corneal or lens defect complete or partial opacity of the lens or cornea\nExample: cataract EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173542 coat: hair follicle structure/orientation anomalies malformation or misalignment of the epidermis from which the hair shaft develops\nExample: absent hair follicles EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173547 vibrissae: dysmorphology "abnormal appearance, alignment or structure of the vibrissae Example: curly whiskers, tangled whiskers" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173597 kidney/renal system: no defect detected no anomaly observed in examination of kidney Example: normal kidney EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173603 digestive system: no defect detected no anomaly observed in the function of or in any region of the digestive system Example: normal digestive system EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Erwin F Wagner" "Part of the first exon was replaced by an in frame lacZ gene, followed by either a neomycin or a hygromycin selection cassette. These two different constructs were used to generate separate lines of mice, but the analysis did not distinguish between them . An EGFR-beta-galactosidase fusion protein was produced from this allele that was expressed under the control of the endogenous gene promoter." J:26834 J:45950 J:63426 MGI:2173616 central nervous system: no defect detected no anomaly observed in examination of central nervous system tissues or function Example: normal CNS EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173537 eye: corneal or lens defect complete or partial opacity of the lens or cornea\nExample: cataract EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173539 coat: hair growth defects "absence of hair or abnormal onset of hair growth cycle or development\nExample: loss of hair (alopecia), abnormal hair growth cycle" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173540 coat: hair texture defects "irregular or unusual appearance of the structure of the hair\nExample: waved hair, mottled fur, shiny fur" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173542 coat: hair follicle structure/orientation anomalies malformation or misalignment of the epidermis from which the hair shaft develops\nExample: absent hair follicles EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173547 vibrissae: dysmorphology "abnormal appearance, alignment or structure of the vibrissae Example: curly whiskers, tangled whiskers" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173593 respiratory system: respiratory distress or failure/functional anomalies "inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment\nExample: gasping, irregular breathing, apnea" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173602 digestive system: functional anomalies "altered ability of the body to convert ingested food to nutrients and energy; not due to anatomical defect Example: diarrhea, abnormal nutrient absorption" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Rik Derynck" "A neomycin selection cassette was inserted into exon 2, which encodes the amino terminal segment of the protein." J:27464 J:41158 J:54535 J:62160 J:69420 MGI:2173628 other aberrant phenotype anomaly or dysmorphology not attributable to any other category Example: EGFR MGI:95294 Egfr 8 Egfr waved 5 "Originally named Waved 5, this phenotypic mutant was deemed allelic to Egfr when it failed to complement Egfr." J:75964 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation EGFR MGI:95294 Egfr 8 Egfr waved 5 "Originally named Waved 5, this phenotypic mutant was deemed allelic to Egfr when it failed to complement Egfr." J:75964 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" EGFR MGI:95294 Egfr 8 Egfr waved 5 "Originally named Waved 5, this phenotypic mutant was deemed allelic to Egfr when it failed to complement Egfr." J:75964 MGI:2173540 coat: hair texture defects "irregular or unusual appearance of the structure of the hair\nExample: waved hair, mottled fur, shiny fur" EGFR MGI:95294 Egfr 8 Egfr waved 5 "Originally named Waved 5, this phenotypic mutant was deemed allelic to Egfr when it failed to complement Egfr." J:75964 MGI:2173547 vibrissae: dysmorphology "abnormal appearance, alignment or structure of the vibrissae Example: curly whiskers, tangled whiskers" EGFR MGI:95294 Egfr 8 Egfr "targeted mutation 1, Argiris Efstratiadis" LoxP sites were inserted to flank exons 9 and 10 of the gene. These insertions were reported to interfere with normal expression of the gene and resulted in a null allele. J:60711 EphA2 MGI:95278 Epha2 2 Epha2 "targeted mutation 1, Patrick Charnay" "Exon 1, which encodes the first 30 amino acids, and part of the first intron were replaced by a lacZ-PGK-neomycin resistance cassette. The lacZ-coding sequence was placed immediately downstream of and in frame with the initiating codon. In addition, a fr ameshift mutation was introduced into exon 3. Western blot analysis did not detect protein in heads of homozygous mutant E14.5 embryos. Immunohistochemistry did not detect protein in the brachial region of homozygous mutant E11.5 embryos." J:62985 EphA4 MGI:98277 Epha4 9 Epha4 "gene trap 38, William C Skarnes" J:67920 J:70273 J:82479 EphA4 MGI:98277 Epha4 9 Epha4 "targeted mutation 1, Andrew W Boyd" "A neomycin selection cassette replaced exon 3, corresponding to nucleotides 217-880 of the encoded transcript. Immunohistochemical analysis on E8.5 embryos demonstrated that the encoded protein was not detectable in rhomdomeres of homozygous mice." J:50573 J:67274 J:70369 J:81695 EphA4 MGI:98277 Epha4 9 Epha4 "targeted mutation 1, Rudiger Klein" "A cDNA encoding the wild type protein was fused in frame into exon 3 of the gene followed by a poly (A) site and a loxP flanked neomycin selection cassette. Western blot analysis confirmed the expression of the fusion protein in homozygous mice. This al lele is a control for the Epha4, the Epha4 and the Epha4 alleles." J:67274 EphA4 MGI:98277 Epha4 9 Epha4 "targeted mutation 2, Rudiger Klein" A cDNA encoding a kinase dead mutant protein with a substitution of lysine 653 for methionine was fused in frame into exon 3 of the gene followed by a poly (A) site and a loxP flanked neomycin selection cassette. Western blot analysis confirmed the expre ssion of the fusion protein in homozygous mice. J:67274 EphA4 MGI:98277 Epha4 9 Epha4 "targeted mutation 3, Rudiger Klein" A cDNA encoding a mutant protein with a substitution of phenylalanines for tyrosines 596 and 602 was fused in frame into exon 3 of the gene followed by a poly (A) site and a loxP flanked neomycin selection cassette. Western blot analysis confirmed the ex pression of the fusion protein in homozygous mice. J:67274 EphA4 MGI:98277 Epha4 9 Epha4 "targeted mutation 4, Rudiger Klein" A cDNA encoding a mutant protein with a deletion of amino acids 905-974 (the SAM domain) was fused in frame into exon 3 of the gene followed by a poly (A) site and a loxP flanked neomycin selection cassette. Western blot analysis confirmed the expression of the fusion protein in homozygous mice. J:67274 EphA4 MGI:98277 Epha4 9 Epha4 "targeted mutation 1, Ole Kiehn" Exon 3 was replaced with a cassette containing b-lactamase cDNA fused to the tau gene. J:82479 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" EphA4 MGI:98277 Epha4 9 Epha4 "targeted mutation 1, Ole Kiehn" Exon 3 was replaced with a cassette containing b-lactamase cDNA fused to the tau gene. J:82479 MGI:2173615 central nervous system: other functional anomalies "altered brain or spinal cord function not due to LTP or anatomical defect Example: reduced synaptic currents, increased dopaminergic levels" EphA8 MGI:109378 Epha8 2 Epha8 "targeted mutation 1, Mariano Barbacid" "The exon encoding the extracellular domain was replaced with sequence encoding the transmembrane domain of the human NTRK1 receptor followed by lacZ and neo genes. The deletion was designed to generate a chimeric protein in which the fibronectin type III- like domains were absent from the extracellular region, leaving only 116 carboxy terminal residues intact, and in which the entire cytoplasmic region was replaced by lacZ. LacZ activity was detected during embryonic stages and undetected during postnatal development." J:41127 EphB2 MGI:99611 Ephb2 3 Ephb2 "targeted mutation 2, Tony Pawson" "Insertion of a LacZ-neomycin resistance cassette in-frame at codon 622. Western blot analysis using a polyclonal Ephb2 antibody did not detect protein in cell surface immunoprecipitates of primary brain cultures from homozygous mutant neonates (P4), howev er a polyclonal beta-galactosidase antibody did detect a novel 200 kDa protein in these cultures. The authors propose that the mutant allele produces a fusion receptor protein comprised of the extracellular, transmembrane, and juxtamembrane domains (amino acids 1-621) linked to beta-galactosidase, and that this mutated receptor lacks the entire tyrosine kinase catalytic and C-terminal domains (amino acids 622-707)." J:34200 J:37095 J:60855 J:62565 J:73504 J:73508 J:78411 EphB2 MGI:99611 Ephb2 3 Ephb2 "targeted mutation 1, Tony Pawson" "A PGK-neomycin resistance cassette replaced 1.4kb of sequence including the exon that encodes amino acids 29-50, and introduced a frame shift downstream of the insertion. In an immune-complex in vitro tyrosine kinase assay, antiserum raised against the C- terminal of the protein did not detect wild type protein in lysates of homozygous mutant E10.5 embryos." J:34200 J:37095 J:60855 J:62565 J:73504 J:73508 J:78411 EphB3 MGI:104770 Ephb3 2 Ephb3 "targeted mutation 1, Rudiger Klein" Replacement of four exons and part of a fifth exon containing sequences encoding part of the kinase domain with a PGK-neomycin resistance cassette. RT-PCR studies did not detect any transcript containing the sequences encoding the kinase domain or the jux tamembrane domain in E16.5 embryonic heads of homozygous mutant mice. J:37095 J:60855 J:73508 J:78411 J:79724 EphB4 MGI:104757 Ephb4 2 Ephb4 "targeted mutation 1, David J Anderson" A tau-lacZ-PGK-neo cassette replaced exon 1 and was fused in frame to the translation start codon via homologous recombination. Homozygous mutant embryos were identified by PCR genotyping at E9.5. J:57908 EphB6 MGI:1096338 Ephb6 3 Ephb6 "targeted mutation 1, Toshimitsu Matsui" A portion of exon 1 and all of exons 2 and 3 were replaced by a floxed neo cassette inserted by homologous recombination. The deleted region included the translational start codon. J:79747 EphB6 MGI:1096338 Ephb6 3 Ephb6 "targeted mutation 2, Toshimitsu Matsui" A portion of exon 1 and all of exons 2 and 3 were replaced by a floxed neo cassette inserted by homologous recombination. The deleted region included the translational start codon. J:79747 ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Genentech" Replacement of an exon encoding amino acids 256-304 with a neomycin cassette. This mutation disrupts the first extracellular cysteine-rich domain; this region had been demonstated to be the putative ligand interacting site. J:45302 J:62377 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Genentech" Replacement of an exon encoding amino acids 256-304 with a neomycin cassette. This mutation disrupts the first extracellular cysteine-rich domain; this region had been demonstated to be the putative ligand interacting site. J:45302 J:62377 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Genentech" Replacement of an exon encoding amino acids 256-304 with a neomycin cassette. This mutation disrupts the first extracellular cysteine-rich domain; this region had been demonstated to be the putative ligand interacting site. J:45302 J:62377 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Christopher Hauser" A PGK-neomycin cassette replaced 2.0 kb of sequence containing the promoter and first exon. J:29973 J:56035 J:60191 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Christopher Hauser" A PGK-neomycin cassette replaced 2.0 kb of sequence containing the promoter and first exon. J:29973 J:56035 J:60191 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Christopher Hauser" A PGK-neomycin cassette replaced 2.0 kb of sequence containing the promoter and first exon. J:29973 J:56035 J:60191 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173613 central nervous system: other dysmorphology "abnormal development of spinal cord or neuronal defects resulting in morphological abnormality Example: spinal cord defects, absent motor neurons" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Carmen Birchmeier" Fusion of lacZ sequences to an exon encoding the cytoplasmic juxtamembrane domain. This allele expresses a fusion protein of ErbB2 and beta-galactosidase that lacks the kinase domain of ErbB2. J:48515 J:58105 J:77347 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2, Carmen Birchmeier" LoxP sites were inserted into intronic sequences flanking three exons. An adjacent loxP flanked neomycin selection cassette was removed in ES cells by transient Cre recombinase transfection prior to the production of chimeric mice. J:75421 J:77347 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2, Carmen Birchmeier" LoxP sites were inserted into intronic sequences flanking three exons. An adjacent loxP flanked neomycin selection cassette was removed in ES cells by transient Cre recombinase transfection prior to the production of chimeric mice. J:75421 J:77347 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2, Carmen Birchmeier" LoxP sites were inserted into intronic sequences flanking three exons. An adjacent loxP flanked neomycin selection cassette was removed in ES cells by transient Cre recombinase transfection prior to the production of chimeric mice. J:75421 J:77347 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2, Carmen Birchmeier" LoxP sites were inserted into intronic sequences flanking three exons. An adjacent loxP flanked neomycin selection cassette was removed in ES cells by transient Cre recombinase transfection prior to the production of chimeric mice. J:75421 J:77347 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2, Carmen Birchmeier" LoxP sites were inserted into intronic sequences flanking three exons. An adjacent loxP flanked neomycin selection cassette was removed in ES cells by transient Cre recombinase transfection prior to the production of chimeric mice. J:75421 J:77347 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2.1, Carmen Birchmeier" This allele is a derivative of Erbb2 in which the loxP flanked sequences were deleted in vivo by crossing mice carrying this allele to mice carrying the TgN(CMV-Cre)1Cgn transgene. J:75421 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2.1, Carmen Birchmeier" This allele is a derivative of Erbb2 in which the loxP flanked sequences were deleted in vivo by crossing mice carrying this allele to mice carrying the TgN(CMV-Cre)1Cgn transgene. J:75421 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2.1, Carmen Birchmeier" This allele is a derivative of Erbb2 in which the loxP flanked sequences were deleted in vivo by crossing mice carrying this allele to mice carrying the TgN(CMV-Cre)1Cgn transgene. J:75421 MGI:2173613 central nervous system: other dysmorphology "abnormal development of spinal cord or neuronal defects resulting in morphological abnormality Example: spinal cord defects, absent motor neurons" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, William Muller" Exon 1 was targeted with a PGK-neo cassette preceded by a point mutation at lysine 757 (K757M) destroying the kinase activity of the gene product. Homozygous mutant embyros were identified by genotype analysis at E11.5-E13.5. J:74283 ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 2, William Muller" Exon 1 was targeted with a PGK-neo cassette preceded by a wild type cDNA copy of the gene. J:74283 ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Kuo-Fen Lee" A 3.0 kb region containing 1.5 kb of the endogenous promoter and exon 1 was flanked by loxP sites. Exon 1 encodes amino acids 1 through 27. J:76196 J:81239 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Kuo-Fen Lee" A 3.0 kb region containing 1.5 kb of the endogenous promoter and exon 1 was flanked by loxP sites. Exon 1 encodes amino acids 1 through 27. J:76196 J:81239 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Kuo-Fen Lee" A 3.0 kb region containing 1.5 kb of the endogenous promoter and exon 1 was flanked by loxP sites. Exon 1 encodes amino acids 1 through 27. J:76196 J:81239 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Kuo-Fen Lee" A 3.0 kb region containing 1.5 kb of the endogenous promoter and exon 1 was flanked by loxP sites. Exon 1 encodes amino acids 1 through 27. J:76196 J:81239 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 3, William Muller" Exon 1 was replaced with a loxP-flanked rat Erbb2 cDNA followed by a neomycin selection cassette. Immunoprecipitation and western blot analysis demonstrated that a reduced level of expressed protein was present in muscle extracts derived from homozygous mice. Crossing mice carrying this allele with mice expressing Cre recombinase is expected to eliminate expression from this allele. J:81565 J:82801 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 3, William Muller" Exon 1 was replaced with a loxP-flanked rat Erbb2 cDNA followed by a neomycin selection cassette. Immunoprecipitation and western blot analysis demonstrated that a reduced level of expressed protein was present in muscle extracts derived from homozygous mice. Crossing mice carrying this allele with mice expressing Cre recombinase is expected to eliminate expression from this allele. J:81565 J:82801 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 3, William Muller" Exon 1 was replaced with a loxP-flanked rat Erbb2 cDNA followed by a neomycin selection cassette. Immunoprecipitation and western blot analysis demonstrated that a reduced level of expressed protein was present in muscle extracts derived from homozygous mice. Crossing mice carrying this allele with mice expressing Cre recombinase is expected to eliminate expression from this allele. J:81565 J:82801 MGI:2173553 teeth: tooth dysmorphology "abnormal development of teeth resulting in morphological abnormality\nExample: long teeth, no teeth, brittle teeth" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 3, William Muller" Exon 1 was replaced with a loxP-flanked rat Erbb2 cDNA followed by a neomycin selection cassette. Immunoprecipitation and western blot analysis demonstrated that a reduced level of expressed protein was present in muscle extracts derived from homozygous mice. Crossing mice carrying this allele with mice expressing Cre recombinase is expected to eliminate expression from this allele. J:81565 J:82801 MGI:2173558 musculature: muscle dysmorphology "abnormal development of muscle tissue resulting in morphological abnormality\nExample: hernia, muscle dysplasia" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 3, William Muller" Exon 1 was replaced with a loxP-flanked rat Erbb2 cDNA followed by a neomycin selection cassette. Immunoprecipitation and western blot analysis demonstrated that a reduced level of expressed protein was present in muscle extracts derived from homozygous mice. Crossing mice carrying this allele with mice expressing Cre recombinase is expected to eliminate expression from this allele. J:81565 J:82801 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 3, William Muller" Exon 1 was replaced with a loxP-flanked rat Erbb2 cDNA followed by a neomycin selection cassette. Immunoprecipitation and western blot analysis demonstrated that a reduced level of expressed protein was present in muscle extracts derived from homozygous mice. Crossing mice carrying this allele with mice expressing Cre recombinase is expected to eliminate expression from this allele. J:81565 J:82801 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 3, William Muller" Exon 1 was replaced with a loxP-flanked rat Erbb2 cDNA followed by a neomycin selection cassette. Immunoprecipitation and western blot analysis demonstrated that a reduced level of expressed protein was present in muscle extracts derived from homozygous mice. Crossing mice carrying this allele with mice expressing Cre recombinase is expected to eliminate expression from this allele. J:81565 J:82801 MGI:2173615 central nervous system: other functional anomalies "altered brain or spinal cord function not due to LTP or anatomical defect Example: reduced synaptic currents, increased dopaminergic levels" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Timothy Vartanian" Sequence encompassing the exon encoding the essential transmembrane domain and portions of both the extracellular and cytomplasmic domains was replaced with a neomycin selection cassette inserted by homologous recombination. Western blot analysis detected reduced levels of protein in heterozygous embryos and no normal protein in homozygous embryos. J:71775 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Timothy Vartanian" Sequence encompassing the exon encoding the essential transmembrane domain and portions of both the extracellular and cytomplasmic domains was replaced with a neomycin selection cassette inserted by homologous recombination. Western blot analysis detected reduced levels of protein in heterozygous embryos and no normal protein in homozygous embryos. J:71775 MGI:2173613 central nervous system: other dysmorphology "abnormal development of spinal cord or neuronal defects resulting in morphological abnormality Example: spinal cord defects, absent motor neurons" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Ulrich Muller" loxP sites flanking exon 1 were introduced via homologous recombination. J:82801 MGI:2173558 musculature: muscle dysmorphology "abnormal development of muscle tissue resulting in morphological abnormality\nExample: hernia, muscle dysplasia" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Ulrich Muller" loxP sites flanking exon 1 were introduced via homologous recombination. J:82801 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Ulrich Muller" loxP sites flanking exon 1 were introduced via homologous recombination. J:82801 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" ErbB2 MGI:95410 Erbb2 12 Erbb2 "targeted mutation 1, Ulrich Muller" loxP sites flanking exon 1 were introduced via homologous recombination. J:82801 MGI:2173615 central nervous system: other functional anomalies "altered brain or spinal cord function not due to LTP or anatomical defect Example: reduced synaptic currents, increased dopaminergic levels" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Genentech" Replacement of an exon encoding amino acids 73-107 with a neomycin cassette. This mutation disrupts the coding region before the putative ligand binding site. J:45302 J:62377 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Genentech" Replacement of an exon encoding amino acids 73-107 with a neomycin cassette. This mutation disrupts the coding region before the putative ligand binding site. J:45302 J:62377 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Genentech" Replacement of an exon encoding amino acids 73-107 with a neomycin cassette. This mutation disrupts the coding region before the putative ligand binding site. J:45302 J:62377 MGI:2173588 heart/cardiovascular system: blood circulatory defects "abnormalities in the flow of blood from the heart to the vasculature and back to the heart\nExample: abnormal vascular permeability, vasoconstriction" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Genentech" Replacement of an exon encoding amino acids 73-107 with a neomycin cassette. This mutation disrupts the coding region before the putative ligand binding site. J:45302 J:62377 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Carmen Birchmeier" Exons encoding a large part of the extracellular domain of the protein were deleted and replaced by a neomycin cassette. A truncated protein is produced from this allele. J:43515 J:48515 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Carmen Birchmeier" Exons encoding a large part of the extracellular domain of the protein were deleted and replaced by a neomycin cassette. A truncated protein is produced from this allele. J:43515 J:48515 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Carmen Birchmeier" Exons encoding a large part of the extracellular domain of the protein were deleted and replaced by a neomycin cassette. A truncated protein is produced from this allele. J:43515 J:48515 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Carmen Birchmeier" Exons encoding a large part of the extracellular domain of the protein were deleted and replaced by a neomycin cassette. A truncated protein is produced from this allele. J:43515 J:48515 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Carmen Birchmeier" Exons encoding a large part of the extracellular domain of the protein were deleted and replaced by a neomycin cassette. A truncated protein is produced from this allele. J:43515 J:48515 MGI:2173593 respiratory system: respiratory distress or failure/functional anomalies "inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment\nExample: gasping, irregular breathing, apnea" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Carmen Birchmeier" Exons encoding a large part of the extracellular domain of the protein were deleted and replaced by a neomycin cassette. A truncated protein is produced from this allele. J:43515 J:48515 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 1, Carmen Birchmeier" Exons encoding a large part of the extracellular domain of the protein were deleted and replaced by a neomycin cassette. A truncated protein is produced from this allele. J:43515 J:48515 MGI:2173618 peripheral nervous system: functional anomalies "altered sensory, sympathetic or motor ability not due to PNS anatomical defect Example: abnormal synaptic transmission" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 2, Carmen Birchmeier" "A neomycin gene was fused to an exon encoding extracellular sequences of the protein, introducing termination codons in all three reading frames. No protein is produced from this allele." J:43515 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 2, Carmen Birchmeier" "A neomycin gene was fused to an exon encoding extracellular sequences of the protein, introducing termination codons in all three reading frames. No protein is produced from this allele." J:43515 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 2, Carmen Birchmeier" "A neomycin gene was fused to an exon encoding extracellular sequences of the protein, introducing termination codons in all three reading frames. No protein is produced from this allele." J:43515 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 2, Carmen Birchmeier" "A neomycin gene was fused to an exon encoding extracellular sequences of the protein, introducing termination codons in all three reading frames. No protein is produced from this allele." J:43515 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 2, Carmen Birchmeier" "A neomycin gene was fused to an exon encoding extracellular sequences of the protein, introducing termination codons in all three reading frames. No protein is produced from this allele." J:43515 MGI:2173593 respiratory system: respiratory distress or failure/functional anomalies "inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment\nExample: gasping, irregular breathing, apnea" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 2, Carmen Birchmeier" "A neomycin gene was fused to an exon encoding extracellular sequences of the protein, introducing termination codons in all three reading frames. No protein is produced from this allele." J:43515 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" ErbB3 MGI:95411 Erbb3 4 Erbb3 "targeted mutation 2, Carmen Birchmeier" "A neomycin gene was fused to an exon encoding extracellular sequences of the protein, introducing termination codons in all three reading frames. No protein is produced from this allele." J:43515 MGI:2173618 peripheral nervous system: functional anomalies "altered sensory, sympathetic or motor ability not due to PNS anatomical defect Example: abnormal synaptic transmission" ERK1 MGI:1346859 Mapk3 2 Mapk3 "targeted mutation 1, Gilles Pages" The insertion of a neomycin selection cassette deleted exonic sequence encoding the essential kinase subdomains 5 and 6. Immunoblot analysis of protein extracts from MEFs and various tissues showed an absence of protein in homozygous mutant mice. J:58468 ERK5 MGI:1346347 Mapk7 3 Mapk7 "targeted mutation 1, Keisuke Kuida" Portions of exons 2 and 3 were deleted by the insertion of a neomycin selection cassette. Western blot analysis showed an absence of encoded protien in embryonic fibroblasts derived from homozygous mutant mice. J:77725 ERK5 MGI:1346347 Mapk7 3 Mapk7 "targeted mutation 1, Astar Winoto" 3.7 kb of genomic sequence were replaced with a floxed neomycin selection cassette inserted by homologous recombination. The deleted region included 1.8 kb of coding sequence encoding the initiator methionine and the kinase domain. No protein was detected by Western blot analysis of homozygous embryonic lysates. J:80044 FAK MGI:95481 Ptk2 2 Ptk2 "targeted mutation 1, Institute of Molecular Embryology and Genetics" A neomycin resistance cassette was inserted into sequences encoding the beginning of the kinase domain. Western blot analysis of lysates derived from E8.5 embryos demonstrated that the protein was absent in homozygotes. J:29273 J:29978 J:82150 FER MGI:105917 Fert2 3 Fert2 "targeted mutation 1, Peter A Greer" An aspartate to arginine mutation at position 743 (D743R) was introduced into exon 19 via homologous recombination in conjunction with a neo resistance cassette downstream of exon 20. The mutation is designed to inactivate the kinase domain by destabilizi ng the catalytic loop. Western blot analysis of homozygous mutant animals detected protein expression in testis but greatly reduced protein expression in liver. Kinase assays demonstrated complete absence of kinase activity in both testis and liver extrac ts from homozygous mutants. J:67350 J:76415 FER MGI:105917 Fert2 3 Fert2 "targeted mutation 2, Peter A Greer" A neo resistance cassette was introduced downstream of exon 20 via homologous recombination. Western blot analysis demonstrated that the neo cassette did not alter gene expression or protein stability in homozygous mutant animals. J:67350 FES MGI:95514 Fes 3 Fes "targeted mutation 1, M Celeste Simon" The promoter and translation initiation codon were replaced with a PGK-neo cassette via homologous recombination. Homozygous mutant embryonic stem cells were identified by Southern blot analysis and Western blot analysis was used to confirm the absence of gene expression. J:64748 FES MGI:95514 Fes 3 Fes "targeted mutation 2, M Celeste Simon" A 2.5 kb region of the gene spanning exons 12-14 were replaced with a PGK-neo cassette via homologous recombination. The gene targeting event results in deletion of the C-terminal SH2 domain and the ATP-binding site of the tyrosine kinase domain (amino ac ids 497-607). Homozygous mutant embryonic stem cells were identified via Southern blot analysis. J:76509 FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Philip Leder" "A neomycin cassette disrupted exon 4 of the gene, introducing stop codons in the three reading frames and truncating the coding sequence immediately after the Ig2 domain." J:22118 J:40312 J:41810 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Philip Leder" "A neomycin cassette disrupted exon 4 of the gene, introducing stop codons in the three reading frames and truncating the coding sequence immediately after the Ig2 domain." J:22118 J:40312 J:41810 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Philip Leder" "A neomycin cassette disrupted exon 4 of the gene, introducing stop codons in the three reading frames and truncating the coding sequence immediately after the Ig2 domain." J:22118 J:40312 J:41810 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Janet Rossant" "A genomic fragment containing exons 8-14, which encode the transmembrane and most of the catalytic domain, was replaced by a neomycin resistance cassette." J:22117 J:70485 MGI:2173611 central nervous system: neural tube defects abnormal development of the embryonic neural tube resulting in morphological abnormality Example: spina bifida FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7. A three to five fold reduction of the full length transcript was noted by northern blot analysis in homozygous mice, and suggests that this is a hypomorphic allele." J:49154 J:78879 J:81179 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7. A three to five fold reduction of the full length transcript was noted by northern blot analysis in homozygous mice, and suggests that this is a hypomorphic allele." J:49154 J:78879 J:81179 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7. A three to five fold reduction of the full length transcript was noted by northern blot analysis in homozygous mice, and suggests that this is a hypomorphic allele." J:49154 J:78879 J:81179 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7. A three to five fold reduction of the full length transcript was noted by northern blot analysis in homozygous mice, and suggests that this is a hypomorphic allele." J:49154 J:78879 J:81179 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7. A three to five fold reduction of the full length transcript was noted by northern blot analysis in homozygous mice, and suggests that this is a hypomorphic allele." J:49154 J:78879 J:81179 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7. A three to five fold reduction of the full length transcript was noted by northern blot analysis in homozygous mice, and suggests that this is a hypomorphic allele." J:49154 J:78879 J:81179 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2.1, Janet Rossant" This allele is a derivative of Fgfr1 in which the loxP flanked neomycin cassette was removed via Cre mediated recombination by crossing Fgfr1 mice with transgenic mice expressing Cre under the control of a CMV or beta-actin promoter. J:49154 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 3, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7, and a point mutation was introduced in IIIc that introduced an in frame stop codon to specifically disrupt expression of the IIIc isoform of the protein. This is a hypomorphic allele." J:49154 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 3, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7, and a point mutation was introduced in IIIc that introduced an in frame stop codon to specifically disrupt expression of the IIIc isoform of the protein. This is a hypomorphic allele." J:49154 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 3.1, Janet Rossant" This allele is a derivative of Fgfr1 in which the loxP flanked neomycin cassette was removed via Cre mediated recombination by crossing Fgfr1 mice with transgenic mice expressing Cre under the control of a CMV or beta-actin promoter. J:49154 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 3.1, Janet Rossant" This allele is a derivative of Fgfr1 in which the loxP flanked neomycin cassette was removed via Cre mediated recombination by crossing Fgfr1 mice with transgenic mice expressing Cre under the control of a CMV or beta-actin promoter. J:49154 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 4, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7, and a point mutation was introduced in IIIb that introduced an in frame stop codon to specifically disrupt expression of the IIIb isoform of the protein. This is a hypomorphic allele." J:49154 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 4, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7, and a point mutation was introduced in IIIb that introduced an in frame stop codon to specifically disrupt expression of the IIIb isoform of the protein. This is a hypomorphic allele." J:49154 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 4, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7, and a point mutation was introduced in IIIb that introduced an in frame stop codon to specifically disrupt expression of the IIIb isoform of the protein. This is a hypomorphic allele." J:49154 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 4, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7, and a point mutation was introduced in IIIb that introduced an in frame stop codon to specifically disrupt expression of the IIIb isoform of the protein. This is a hypomorphic allele." J:49154 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 4, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7, and a point mutation was introduced in IIIb that introduced an in frame stop codon to specifically disrupt expression of the IIIb isoform of the protein. This is a hypomorphic allele." J:49154 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 4, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 7, and a point mutation was introduced in IIIb that introduced an in frame stop codon to specifically disrupt expression of the IIIb isoform of the protein. This is a hypomorphic allele." J:49154 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 4.1, Janet Rossant" This allele is a derivative of Fgfr1 in which the loxP flanked neomycin cassette was removed via Cre mediated recombination by crossing Fgfr1 mice with transgenic mice expressing Cre under the control of a CMV or beta-actin promoter. J:49154 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 5, Janet Rossant" A loxP flanked neomycin cassette was inserted into intron 15. This is a hypomorphic allele. J:49154 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 5, Janet Rossant" A loxP flanked neomycin cassette was inserted into intron 15. This is a hypomorphic allele. J:49154 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 5, Janet Rossant" A loxP flanked neomycin cassette was inserted into intron 15. This is a hypomorphic allele. J:49154 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 5, Janet Rossant" A loxP flanked neomycin cassette was inserted into intron 15. This is a hypomorphic allele. J:49154 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 5, Janet Rossant" A loxP flanked neomycin cassette was inserted into intron 15. This is a hypomorphic allele. J:49154 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 5.1, Janet Rossant" This allele is a derivative of Fgfr1 in which the loxP flanked neomycin cassette was removed via Cre mediated recombination by crossing Fgfr1 mice with transgenic mice expressing Cre under the control of a CMV or beta-actin promoter. J:49154 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 6, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 15, and point mutations were introduced into the sequences encoding the one of the autophosphorylation sites and the PLCgamma binding site that altered the corresponding amino acids from tyrosine t o phenylalanine. This is a hypomorphic allele." J:49154 J:78879 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 6, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 15, and point mutations were introduced into the sequences encoding the one of the autophosphorylation sites and the PLCgamma binding site that altered the corresponding amino acids from tyrosine t o phenylalanine. This is a hypomorphic allele." J:49154 J:78879 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 6, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 15, and point mutations were introduced into the sequences encoding the one of the autophosphorylation sites and the PLCgamma binding site that altered the corresponding amino acids from tyrosine t o phenylalanine. This is a hypomorphic allele." J:49154 J:78879 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 6, Janet Rossant" "A loxP flanked neomycin cassette was inserted into intron 15, and point mutations were introduced into the sequences encoding the one of the autophosphorylation sites and the PLCgamma binding site that altered the corresponding amino acids from tyrosine t o phenylalanine. This is a hypomorphic allele." J:49154 J:78879 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 6.1, Janet Rossant" This allele is a derivative of Fgfr1 in which the loxP flanked neomycin cassette was removed via Cre mediated recombination by crossing Fgfr1 mice with transgenic mice expressing Cre under the control of a CMV or beta-actin promoter. J:49154 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced exon 3, which encodes the first Ig domain contained only in alpha isoforms of the protein. Western blot analysis demonstrated that the alpha isoforms of the protein were not expressed in E9.5 mutant embryos. RT-PC R analysis showed that an increased level of expression of ""b"" isoform transcripts may partially compensate for loss of alpha isoform expression, and the expression of the ""c"" isoform is apparently unaffected." J:54222 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced exon 3, which encodes the first Ig domain contained only in alpha isoforms of the protein. Western blot analysis demonstrated that the alpha isoforms of the protein were not expressed in E9.5 mutant embryos. RT-PC R analysis showed that an increased level of expression of ""b"" isoform transcripts may partially compensate for loss of alpha isoform expression, and the expression of the ""c"" isoform is apparently unaffected." J:54222 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced exon 3, which encodes the first Ig domain contained only in alpha isoforms of the protein. Western blot analysis demonstrated that the alpha isoforms of the protein were not expressed in E9.5 mutant embryos. RT-PC R analysis showed that an increased level of expression of ""b"" isoform transcripts may partially compensate for loss of alpha isoform expression, and the expression of the ""c"" isoform is apparently unaffected." J:54222 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced exon 3, which encodes the first Ig domain contained only in alpha isoforms of the protein. Western blot analysis demonstrated that the alpha isoforms of the protein were not expressed in E9.5 mutant embryos. RT-PC R analysis showed that an increased level of expression of ""b"" isoform transcripts may partially compensate for loss of alpha isoform expression, and the expression of the ""c"" isoform is apparently unaffected." J:54222 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced exon 3, which encodes the first Ig domain contained only in alpha isoforms of the protein. Western blot analysis demonstrated that the alpha isoforms of the protein were not expressed in E9.5 mutant embryos. RT-PC R analysis showed that an increased level of expression of ""b"" isoform transcripts may partially compensate for loss of alpha isoform expression, and the expression of the ""c"" isoform is apparently unaffected." J:54222 MGI:2173611 central nervous system: neural tube defects abnormal development of the embryonic neural tube resulting in morphological abnormality Example: spina bifida FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2, Chu-Xia Deng" A point mutation was introduced into intron 7 that altered codon 250 from on encoding proline to one encoding arginine. This mutation corresponds to a known human mutation in this gene that is a cause of Pfeiffer syndrome. A loxP flanked neomycin casset te was also inserted into intron 6. J:63959 FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2.1, Chu-Xia Deng" Derivative of Fgfr1. A point mutation was introduced into intron 7 that altered codon 250 from one encoding proline to one encoding arginine. This mutation corresponds to a known human mutation in this gene that is a cause of Pfeiffer syndrome. A loxP flanked neomycin cassette in intron 6 was removed via Cre mediated recombination leaving one loxP site. J:63959 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2.1, Chu-Xia Deng" Derivative of Fgfr1. A point mutation was introduced into intron 7 that altered codon 250 from one encoding proline to one encoding arginine. This mutation corresponds to a known human mutation in this gene that is a cause of Pfeiffer syndrome. A loxP flanked neomycin cassette in intron 6 was removed via Cre mediated recombination leaving one loxP site. J:63959 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 2.1, Chu-Xia Deng" Derivative of Fgfr1. A point mutation was introduced into intron 7 that altered codon 250 from one encoding proline to one encoding arginine. This mutation corresponds to a known human mutation in this gene that is a cause of Pfeiffer syndrome. A loxP flanked neomycin cassette in intron 6 was removed via Cre mediated recombination leaving one loxP site. J:63959 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 3, Chu-Xia Deng" A single loxP site was introduced 5' to exon 8 and a loxP-flanked neomycin resistance cassette was inserted 3' to exon 14. This mutation interferes with normal spicing of the encoded transcript. J:75137 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 3.1, Chu-Xia Deng" This heritable allele is a derivative of Fgfr1 in which exons 8-14 and flanking sequences were deleted by Cre mediated recombination. J:75137 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 3.2, Chu-Xia Deng" "This heritable allele is a derivative of Fgfr1 in which the loxP flanked neomycin resistance cassette was deleted by Cre mediated recombination, leaving loxP sites flanking exons 8-14 in the final allele." J:75137 FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1, Juha Partanen" "Several steps of homologous and cre-mediated recombination left single loxP sites flanking exons 8 through 15. The floxed exons encode the transmembrane domain, juxtamembrane domain, and most of the tyrosine kinase domain." J:81179 J:81763 J:83004 FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1.1, Juha Partanen" A floxed region encompassing exons 8 through 15 was excised via cre-mediated recombination in the germline. J:83004 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR1 MGI:95522 Fgfr1 21 Fgfr1 "targeted mutation 1.1, Juha Partanen" A floxed region encompassing exons 8 through 15 was excised via cre-mediated recombination in the germline. J:83004 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced a genomic fragment containing exons 7, 8 and 9 of the gene. These exons encode Ig domain IIIa, b and c. A mutant transcript that splices exon 6 in frame to exon 10 was detected by RT-PCR analysis, although at abou t one fifth of the wild type levels. Western blot analysis revealed that a mutant protein is expressed in E10.5 homozygous embryos, but binding assays demonstrated that this mutant protein did not bind ligand." J:46380 J:72550 J:81154 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced a genomic fragment containing exons 7, 8 and 9 of the gene. These exons encode Ig domain IIIa, b and c. A mutant transcript that splices exon 6 in frame to exon 10 was detected by RT-PCR analysis, although at abou t one fifth of the wild type levels. Western blot analysis revealed that a mutant protein is expressed in E10.5 homozygous embryos, but binding assays demonstrated that this mutant protein did not bind ligand." J:46380 J:72550 J:81154 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced a genomic fragment containing exons 7, 8 and 9 of the gene. These exons encode Ig domain IIIa, b and c. A mutant transcript that splices exon 6 in frame to exon 10 was detected by RT-PCR analysis, although at abou t one fifth of the wild type levels. Western blot analysis revealed that a mutant protein is expressed in E10.5 homozygous embryos, but binding assays demonstrated that this mutant protein did not bind ligand." J:46380 J:72550 J:81154 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced a genomic fragment containing exons 7, 8 and 9 of the gene. These exons encode Ig domain IIIa, b and c. A mutant transcript that splices exon 6 in frame to exon 10 was detected by RT-PCR analysis, although at abou t one fifth of the wild type levels. Western blot analysis revealed that a mutant protein is expressed in E10.5 homozygous embryos, but binding assays demonstrated that this mutant protein did not bind ligand." J:46380 J:72550 J:81154 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced a genomic fragment containing exons 7, 8 and 9 of the gene. These exons encode Ig domain IIIa, b and c. A mutant transcript that splices exon 6 in frame to exon 10 was detected by RT-PCR analysis, although at abou t one fifth of the wild type levels. Western blot analysis revealed that a mutant protein is expressed in E10.5 homozygous embryos, but binding assays demonstrated that this mutant protein did not bind ligand." J:46380 J:72550 J:81154 MGI:2173556 ears: dysmorphology "abnormal development of auditory tissue resulting in morphological abnormality\nExample: small ears, inner ear abnormalities" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Chu-Xia Deng" "A neomycin resistance cassette replaced a genomic fragment containing exons 7, 8 and 9 of the gene. These exons encode Ig domain IIIa, b and c. A mutant transcript that splices exon 6 in frame to exon 10 was detected by RT-PCR analysis, although at abou t one fifth of the wild type levels. Western blot analysis revealed that a mutant protein is expressed in E10.5 homozygous embryos, but binding assays demonstrated that this mutant protein did not bind ligand." J:46380 J:72550 J:81154 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Peter Lonai" "Insertion of a neomycin resistance cassette in reverse orientation into exon 9, which encodes the IIIc Ig like loop of the ligand binding domain, deleted a ~10-13kb of sequence containing exons 10, 11, and part of exon 12. These exons encode the ATP bind ing site of the first kinase domain." J:47643 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Peter Lonai" "Insertion of a neomycin resistance cassette in reverse orientation into exon 9, which encodes the IIIc Ig like loop of the ligand binding domain, deleted a ~10-13kb of sequence containing exons 10, 11, and part of exon 12. These exons encode the ATP bind ing site of the first kinase domain." J:47643 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Peter Lonai" "Insertion of a neomycin resistance cassette in reverse orientation into exon 9, which encodes the IIIc Ig like loop of the ligand binding domain, deleted a ~10-13kb of sequence containing exons 10, 11, and part of exon 12. These exons encode the ATP bind ing site of the first kinase domain." J:47643 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1, Clive Dickson" "LoxP sites were inserted flanking exon IIIb as follows: A loxP flanked neomycin reistance cassette was inserted in the intron 3' to exon IIIb and an additional loxP site was inserted into the intron 5' to exon IIIb. Correctly targeted ES cells were tran siently transfected with a vector expressing Cre recombinase, and lines were selected that retained exon IIIb with flanking loxP sites, and used to inject blastocysts." J:59285 FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173544 skin: pigmentation anomalies "variation of skin color or complexion\nExample: reddish skin, pale skin" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173553 teeth: tooth dysmorphology "abnormal development of teeth resulting in morphological abnormality\nExample: long teeth, no teeth, brittle teeth" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173556 ears: dysmorphology "abnormal development of auditory tissue resulting in morphological abnormality\nExample: small ears, inner ear abnormalities" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173563 skeletal: extremities defects "abnormal development of limb, foot or tail bones resulting in morphological abnormality Example: absence of radius" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173628 other aberrant phenotype anomaly or dysmorphology not attributable to any other category Example: FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 1.1, Clive Dickson" "This allele is a derivative of Fgfr2 in which exon IIIb was excised in the germline as follows: Cre recombinase was transiently expressed in fertilized C57BL/6 x Fgfr2 eggs by injection of an expression vector. Resulting progeny w ere screened for animals with a deletion of exon IIIb. Abnormally spliced transcripts are produced from this allele that splice exon IIIa to the transmembrane domain and the resulting frameshift is predicted to result in a termination codon in the transm embrane domain of the encoded protein. However, a normal IIIa to IIIc and TM transcript is made and is prediced to result in a normal isoform of the protein." J:59285 J:72516 J:73434 J:82083 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2, Clive Dickson" A loxP flanked neomycin resistance and thymidine kinase cassette was inserted into intron 8 and a single loxP site was inserted into intron 9. J:72517 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.1, Clive Dickson" This allele is a derivative of Fgfr2 in which the exon 9 sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.2, Clive Dickson" This allele is a derivative of Fgfr2 in which the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 J:74539 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173579 metabolism: abnormal glucose homeostasis "abnormal glucose processing and utilization\nExample: hyperglycemia, hypoglycemia" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.3, Clive Dickson" This allele is a derivative of Fgfr2 in which both the exon 9 sequences and the neomycin and thymidine kinase sequences were deleted by crossing mice carrying the Fgfr2 allele to mice which expresss Cre recombinase in the germ line. J:72517 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173551 extremities: tail dysmorphology "abnormal development of the tail resulting in morphological abnormality\nExample: curly tail, looped tail, kinked tail, no tail" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173553 teeth: tooth dysmorphology "abnormal development of teeth resulting in morphological abnormality\nExample: long teeth, no teeth, brittle teeth" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173556 ears: dysmorphology "abnormal development of auditory tissue resulting in morphological abnormality\nExample: small ears, inner ear abnormalities" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Clive Dickson" The IIIb isoform of the gene was specifically disrupted by inserting an IRES-lacZ gene cassette into exon IIIb. An adjacent loxP flanked neomycin cassette was removed via Cre mediated recombination by injecting fertilized heterozygous eggs with an vector expressing Cre recombinase. J:67731 J:70820 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2, Peter Lonai" A stop codon was introduced into exon 8 and a floxed neomycin cassette was introduced into intron 9 via homologous recombination. Exon 8 is an Fgfr2IIIb-specific exon of the gene. J:77698 FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 2.1, Peter Lonai" The targeted mutation is derived from Fgfr2 by crossing to a cre-expressing line to remove the floxed neomycin cassette from intron 9. The engineered stop codon in exon 8 was left intact. J:77698 FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3, Peter Lonai" A stop codon was introduced into exon 9 and a floxed neomycin cassette was introduced into intron 9 via homologous recombination. Exon 9 is an Fgfr2IIIc-specific exon of the gene. J:77698 FGFR2 MGI:95523 Fgfr2 14 Fgfr2 "targeted mutation 3.1, Peter Lonai" The targeted mutation is derived from Fgfr2 by crossing to a cre-expressing line to remove the floxed neomycin cassette from intron 9. The engineered stop codon in exon 9 was left intact. The FgfrIIIc-specific absence of gene expression in homozyg ous mutant animals was verified by in situ hybridization. J:77698 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 1, David M Ornitz" "A neomycin cassette replaced 3 kb of sequence that encodes the Ig-like domain II through the transmembrane domain. RNAase protection analysis on samples derived from homozygous mutant adult brain indicates that this allele produces an aberrant transcrip t. However, any translation product produced would be unable to bind ligand and is predicted not to be transported to the cell surface." J:32991 J:50292 J:81919 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 1, Phillip Leder" Insertion of a neomycin cassette into exon 3. Northern blot analysis did not detect mRNA in the brain or the liver of homozygous mutant mice. J:32105 J:50677 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 1, Weizmann Institute of Science" "Introduction of a G to A point mutation in codon 374 (orthologous to human codon 380) that altered the corresponding amino acid from a glycine to an arginine. A loxP flanked neomycin cassette was also inserted into intron 4. Northern blot analysis revea led that a novel high molecular weight mRNA was made in homozygous mutants that hybridized with both Fgfr3 and Neo probes, suggesting that the neomycin cassette may have interfered with proper splicing of the transcript." J:54829 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 2, Weizmann Institute of Science" Introduction of a G to A point mutation in codon 374 (orthologous to human codon 380) that altered the corresponding amino acid from a glycine to an arginine. A loxP flanked neomycin cassette inserted into intron 4 was removed by cre-mediated recombinati on. Northern blot analysis revealed that a normal molecular weight mRNA was made in homozygous mutants. J:54829 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 1, Chu-Xia Deng" Knock-in construct in which a portion of a cDNA corresponding to exons 5-19 followed by a polyadenylation signal was inserted into the endogenous locus. This allele carried a point mutation in codon 644 that altered the corresponding amino acid from lysi ne to glutamine. A loxP flanked neomycin cassette also inserted downstream of the inseted cDNA was removed via Cre mediated recombination in the final allele. J:52438 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 2, Chu-Xia Deng" Knock-in construct in which a portion of a cDNA corresponding to exons 5-19 followed by a polyadenylation signal was inserted into the endogenous locus. This allele expresses a wild type cDNA used as a control for Fgfr3. A loxP flanked neomycin cassette also inserted downstream of the inseted cDNA was removed via Cre mediated recombination in the final allele. J:52438 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 3, Chu-Xia Deng" A point mutation was introduced that altered codon 369 from one encoding glycine to one encoding cysteine. A loxP flanked neomycin cassette was also inserted into an adjacent intron. Normal splicing is abolished in this allele. J:69849 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 3.1, Chu-Xia Deng" A point mutation was introduced that altered codon 369 from one encoding glycine to one encoding cysteine. A loxP flanked neomycin cassette inserted into an adjacent intron was removed via Cre mediated recombination in this derivative of Fgfr3. J:69849 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 4, Chu-Xia Deng" A point mutation was introduced that altered codon 644 from one encoding lysine to one encoding glutamate. A loxP flanked neomycin cassette was also inserted into an adjacent intron. J:63198 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 4.1, Chu-Xia Deng" A point mutation was introduced that altered codon 644 from one encoding lysine to one encoding glutamate. A loxP flanked neomycin cassette inserted into an adjacent intron was removed via Cre mediated recombination in this derivative of Fgfr3. J:63198 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 5.1, Chu-Xia Deng" A point mutation was introduced that altered codon 365 from one encoding serine to one encoding cysteine. A loxP flanked neomycin cassette inserted into an adjacent intron was removed via Cre mediated recombination in this derivative of Fgfr3. J:67780 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 5, Chu-Xia Deng" A point mutation was introduced that altered codon 365 from one encoding serine to one encoding cysteine. A loxP flanked neomycin cassette was also inserted into an adjacent intron. J:67780 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 1, Tomoko Iwata" "A lysine to methionine substitution at residue 644 (K644M) was introduced into exon 10 of the gene along with a floxed neo cassette in intron 10. The mutation corresponds to K650M in humans (exon 15), which is associated with severe achondroplasia with de velopmental delay and acanthosis nigricans (SADDAN)." J:70061 FGFR3 MGI:95524 Fgfr3 15 Fgfr3 "targeted mutation 1.1, Tomoko Iwata" "Fgfr3 animals carry a lysine to methionine substitution at residue 644 (K644M) of exon 10 and a floxed neo cassette in intron 10. The neo cassette was removed by crossing Fgfr3 mutants to the cre expressing line, TgN(EIIa-cre)C5379Lmgd. No rthern blot analysis of brain RNA from mutant animals showed a similar level of gene expression as wild type." J:70061 FGFR4 MGI:95525 Fgfr4 2 Fgfr4 "targeted mutation 1, Chu-Xia Deng" "Insertion of a neomycin cassette into exon 6, which encodes the IgII domain. No mRNA was detected in liver from homozygous mutant animals as assayed by Northern blot. Immunohistochemical analysis failed to detect protein in lungs from homozygous mutant mice." J:50677 J:62267 J:80535 FGR MGI:95527 Fgr 3 Fgr "targeted mutation 1, Harold E Varmus" "Exon 2 was disrupted by the insertion of a neomycin selection cassette. While Northern blot analysis of LPS activated macrophages showed the absence of normal and truncated transcripts, elongated transcript containing the neo transgene was detected in hom ozygous mutant mice. Normal protein was undetected by Western blot analysis, and though the absence of truncated carboxy terminal peptide was not directly confirmed, assays of bone marrow derived macrophages verified a lack of protein kinase activity." J:16994 J:31647 J:59037 J:78300 J:78301 J:78302 J:82782 FGR MGI:95527 Fgr 3 Fgr "targeted mutation 2, Harold E Varmus" "The insertion of a neomycin selection cassette replaced exon 4 and precluded the complete translation of proteins initiated from a potential start codon at position 59 in the 3' terminal of exon 2. Normal protein was undetected by Western blot analysis of homozygous mutant mice, however, the lack of truncated carboxy terminal peptides was not directly verified." J:16994 FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Janet Rossant" A LacZ-neomycin resistance cassette replaced sequences that encode the signal peptide. The authors predict this is a null allele because the translation start site is removed and reinitiation at the first two downstream Kozak sequences would result in out -of-frame translated products. J:26845 J:54830 J:61488 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Janet Rossant" A LacZ-neomycin resistance cassette replaced sequences that encode the signal peptide. The authors predict this is a null allele because the translation start site is removed and reinitiation at the first two downstream Kozak sequences would result in out -of-frame translated products. J:26845 J:54830 J:61488 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Janet Rossant" A LacZ-neomycin resistance cassette replaced sequences that encode the signal peptide. The authors predict this is a null allele because the translation start site is removed and reinitiation at the first two downstream Kozak sequences would result in out -of-frame translated products. J:26845 J:54830 J:61488 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Masabumi Shibuya" "A PGK-neomycin resistance cassette replaced exon 17, which encodes the amino terminal region of the tyrosine kinase domain. Northern blot analysis of homozygous mutant embryos using a 5' cDNA probe detected a ~3kb mRNA, and detected no 7kb full length tr anscript using a 3' probe. Immunoblot analysis of lung tissue from homozygous mutant mice detected the endogenous soluble form of the protein, and a novel truncated form that lacks the cytoplasmic region. No full length protein was expressed from this al lele." J:49507 MGI:2173591 heart/cardiovascular system: no defect detected "no anomaly observed in examination of heart or vascular tissue or in cardiovascular function\nExample: normal heart, normal vasculature" FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Masabumi Shibuya" "A PGK-neomycin resistance cassette replaced exon 17, which encodes the amino terminal region of the tyrosine kinase domain. Northern blot analysis of homozygous mutant embryos using a 5' cDNA probe detected a ~3kb mRNA, and detected no 7kb full length tr anscript using a 3' probe. Immunoblot analysis of lung tissue from homozygous mutant mice detected the endogenous soluble form of the protein, and a novel truncated form that lacks the cytoplasmic region. No full length protein was expressed from this al lele." J:49507 MGI:2173622 reproductive system: no defect detected "no anomaly observed in examination of reproductive system tissues or function Example: normal testes, normal ovaries" FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Masabumi Shibuya" "A PGK-neomycin resistance cassette replaced exon 17, which encodes the amino terminal region of the tyrosine kinase domain. Northern blot analysis of homozygous mutant embryos using a 5' cDNA probe detected a ~3kb mRNA, and detected no 7kb full length tr anscript using a 3' probe. Immunoblot analysis of lung tissue from homozygous mutant mice detected the endogenous soluble form of the protein, and a novel truncated form that lacks the cytoplasmic region. No full length protein was expressed from this al lele." J:49507 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Masabumi Shibuya" "A PGK-neomycin resistance cassette replaced exon 17, which encodes the amino terminal region of the tyrosine kinase domain. Northern blot analysis of homozygous mutant embryos using a 5' cDNA probe detected a ~3kb mRNA, and detected no 7kb full length tr anscript using a 3' probe. Immunoblot analysis of lung tissue from homozygous mutant mice detected the endogenous soluble form of the protein, and a novel truncated form that lacks the cytoplasmic region. No full length protein was expressed from this al lele." J:49507 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Masabumi Shibuya" "A PGK-neomycin resistance cassette replaced exon 17, which encodes the amino terminal region of the tyrosine kinase domain. Northern blot analysis of homozygous mutant embryos using a 5' cDNA probe detected a ~3kb mRNA, and detected no 7kb full length tr anscript using a 3' probe. Immunoblot analysis of lung tissue from homozygous mutant mice detected the endogenous soluble form of the protein, and a novel truncated form that lacks the cytoplasmic region. No full length protein was expressed from this al lele." J:49507 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" FLT1 MGI:95558 Flt1 3 Flt1 "targeted mutation 1, Masabumi Shibuya" "A PGK-neomycin resistance cassette replaced exon 17, which encodes the amino terminal region of the tyrosine kinase domain. Northern blot analysis of homozygous mutant embryos using a 5' cDNA probe detected a ~3kb mRNA, and detected no 7kb full length tr anscript using a 3' probe. Immunoblot analysis of lung tissue from homozygous mutant mice detected the endogenous soluble form of the protein, and a novel truncated form that lacks the cytoplasmic region. No full length protein was expressed from this al lele." J:49507 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" FLT3 MGI:95559 Flt3 2 Flt3 "targeted mutation 1, Ihor R Lemischka" "Exon 3 was disrupted by the insertion of a neomycin selection cassette at the codon corresponding to residue 59 in the mature protein. An RNAse protection assay detected low levels of transcript in homozygous mutant mice. RT-PCR and sequence analyses of t he mutant transcript showed that the targeted exon 3 had been excised, resulting in a frameshift mutation that introduces a stop codon after codon 51." J:27238 FLT4 MGI:95561 Flt4 3 Flt4 chylous ascites "The mutation resulting in the Chy phenotype is an A-to-T mutation at position 3157 resulting in an isoleucine to phenylalanine substitution at position 1053 in the tyrosine kinase domain. This mutation is located in a highly conserved catalytic domain of the receptor, in close proximity to the VEGFR-3 mutations in human primary lymphedema. In addition, the Chy mutation was shown to be allelic to an existing targeted mutation in this gene." J:13981 J:72387 FLT4 MGI:95561 Flt4 3 Flt4 "targeted mutation 1, Kari Alitalo" A lacZ transgene was inserted in the first coding exon allowing its expression to be controlled by the endogenous transcriptional regulatory sequences. Similairy of the expression patterns of the transgene and the endogenous gene was confirmed by in situ hybridization. An absence of endogenous mRNA was observed via in situ hybridaition of homozygous mutant embryonic sections. J:50761 FMS MGI:1339758 Csf1r 2 Csf1r "targeted mutation 1, E Richard Stanley" "Exon 3 was disrupted by the insertion of an in-frame cassette containing a humanized green fluorescent protein sequence and a neomycin resistance gene. While annulment of the allele in mutant mice was indicated by Western blot analysis of bone-marrow deri ved macrophages, expression of the green fluorescent protein could not be detected by fluorescence microscopy or flow cytometry." J:73663 FRK MGI:103265 Frk 2 Frk "targeted mutation 1, Edison T Liu" "Exons 1a and 1b were deleted by the insertion of a neomycin selection cassette. The deleted region contained the 5' untranslated region, the start codon, and sequence encoding the amino terminal residues and the SH2 and SH3 domains. No transcript was dete cted by Northern blot anlysis of homozygous mutant mice. Western blot analysis confirmed the absence of protein." J:77207 FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Philippe Soriano" Replacement of a 3kb fragment containing the first coding exon of the gene with a neomycin cassette. J:20346 J:21120 J:2242 J:28276 J:3417 J:44879 J:50997 J:54973 J:57985 J:59158 J:59490 J:70507 J:80637 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Philippe Soriano" Replacement of a 3kb fragment containing the first coding exon of the gene with a neomycin cassette. J:20346 J:21120 J:2242 J:28276 J:3417 J:44879 J:50997 J:54973 J:57985 J:59158 J:59490 J:70507 J:80637 MGI:2173568 neurological/behavioral: learning/memory impairment "altered ability to receive, store or recall informational stimuli Example: senility, spatial learning impairment" FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Philippe Soriano" Replacement of a 3kb fragment containing the first coding exon of the gene with a neomycin cassette. J:20346 J:21120 J:2242 J:28276 J:3417 J:44879 J:50997 J:54973 J:57985 J:59158 J:59490 J:70507 J:80637 MGI:2173569 neurological/behavioral: seizures/epilepsy "sudden and often acute manifestation of epileptic attack, sometimes convulsive\nExample: epilepsy" FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Philippe Soriano" Replacement of a 3kb fragment containing the first coding exon of the gene with a neomycin cassette. J:20346 J:21120 J:2242 J:28276 J:3417 J:44879 J:50997 J:54973 J:57985 J:59158 J:59490 J:70507 J:80637 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Philippe Soriano" Replacement of a 3kb fragment containing the first coding exon of the gene with a neomycin cassette. J:20346 J:21120 J:2242 J:28276 J:3417 J:44879 J:50997 J:54973 J:57985 J:59158 J:59490 J:70507 J:80637 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Philippe Soriano" Replacement of a 3kb fragment containing the first coding exon of the gene with a neomycin cassette. J:20346 J:21120 J:2242 J:28276 J:3417 J:44879 J:50997 J:54973 J:57985 J:59158 J:59490 J:70507 J:80637 MGI:2173614 central nervous system: LTP anomalies alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells Example: defect in long term potentiation FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Yoji Ikawa" "Replacement of the SH2, SH3 and tyrosine kinase regions of the gene with lacZ. A fusion protein consisiting of the unique region of the protein and beta-galactosidase is expressed from this allele." J:15862 J:16461 J:16847 J:19921 J:21225 J:23384 J:37362 J:42928 J:63170 J:70356 J:74017 J:74705 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Yoji Ikawa" "Replacement of the SH2, SH3 and tyrosine kinase regions of the gene with lacZ. A fusion protein consisiting of the unique region of the protein and beta-galactosidase is expressed from this allele." J:15862 J:16461 J:16847 J:19921 J:21225 J:23384 J:37362 J:42928 J:63170 J:70356 J:74017 J:74705 MGI:2173628 other aberrant phenotype anomaly or dysmorphology not attributable to any other category Example: FYN MGI:95602 Fyn 5 Fyn "gene trap mutation 24, Wolfgang Wurst" The gene trap vector PT1-ATG inserted into the second intron. A fusion transcript was produced that consisted of the first 290bp of the gene fused to lacZ sequences. J:31729 FYN MGI:95602 Fyn 5 Fyn "targeted mutation 1, Roger M Perlmutter" "A neo-derived cassette was used to replace exon 7b via homologous recombination, disrupting the thymic isoform of this gene while leaving the brain isoform intact. Western blot and immunoprecipitation did not detect protein product in thymocytes or spleno cytes of homozygous mutant animals but protein product was present in brain. In Northern blot, mutant transcripts were detected in thymus whereas wild type transcripts were detected in brain, proving successful knock out of the thymic isoform." J:70886 J:71768 GCN2 MGI:1353427 Eif2ak4 2 Eif2ak4 "targeted mutation 1, Douglas R Cavener" "The majority of exon 12, which encodes the kinase subdomains 2 through 4 common to the 3 known isoforms (alpha, beta, and gamma), was replaced by a neomycin selection cassette inserted by homologous recombination. While, RT-PCR analysis showed the presenc e of an aberrant splice product, sequence analysis showed it generated a frameshift mutation in the open reading frame. Western blot analysis verified the absence of protein." J:78945 GPRK5 MGI:109161 Gprk5 2 Gprk5 "targeted mutation 1, Robert J Lefkowitz" "A loxP site was inserted upstream of exon 7 and a floxed TK-neo derived cassette was inserted downstream of exon 8 via homologous recombination. Exons 7 and 8 encode critical subelements I, II, and III of the protein kinase catalytical domain. The floxed region containing exons 7 and 8 and the TK-neo cassette were removed by transient expression of cre recombinase in correctly targeted ES cells. Western blot analysis of brain membranes from homozygous mutant animals confirmed the absence of gene expressio n." J:59179 J:76872 GPRK6 MGI:1347078 Gprk6 3 Gprk6 "targeted mutation 1, Marc G Caron" Exons 3 through 9 were flanked by an upstream floxed neo-tk cassette and a downstream single loxP site. J:83191 GPRK6 MGI:1347078 Gprk6 3 Gprk6 "targeted mutation 1.1, Marc G Caron" The floxed region containing the neo-tk cassette and exons 3 through 9 was excised via cre mediated recombination in the germline. Protein was undetected by Western blot analysis of brainstem and striatum tissue obtained from homozygous mutant mice. Immun ostaining confirmed the absence of protein in homozygous mutant striatal neurons. J:76872 J:83191 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" GPRK6 MGI:1347078 Gprk6 3 Gprk6 "targeted mutation 1.1, Marc G Caron" The floxed region containing the neo-tk cassette and exons 3 through 9 was excised via cre mediated recombination in the germline. Protein was undetected by Western blot analysis of brainstem and striatum tissue obtained from homozygous mutant mice. Immun ostaining confirmed the absence of protein in homozygous mutant striatal neurons. J:76872 J:83191 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" GSK3B MGI:1861437 Gsk3b 2 Gsk3b "targeted mutation 1, James R Woodgett" "A neomycin resistance cassette replaced an exon encoding the ATP-binding loop. Southern and Western blots of embryonic fibroblasts (E12.5) showed no detectable DNA and protein of the targeted gene, respectively." J:63274 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation GSK3B MGI:1861437 Gsk3b 2 Gsk3b "targeted mutation 1, James R Woodgett" "A neomycin resistance cassette replaced an exon encoding the ATP-binding loop. Southern and Western blots of embryonic fibroblasts (E12.5) showed no detectable DNA and protein of the targeted gene, respectively." J:63274 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" HCK MGI:96052 Hck 2 Hck "targeted mutation 1, Harold E Varmus" "This dicistronic locus was disrupted by the insertion of a neomycin selection cassette downstream of both start codons. Elongated transcript, containing the neo transgene, and a shortened transcript, resulting from the splicing of exons 1 and 3, were dete cted in homozygous mutant mice by Northern blot and RT-PCR analyses. Normal protein was undetected by Western blot analysis of bone marrow, and though the absence of truncated carboxy terminal peptide was not directly confirmed, assays of immunoprecipita tes verified a lack of protein kinase activity." J:16994 J:31647 J:59037 J:78300 J:78301 J:78302 J:82782 IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Argiris Efstratiadis" Replacement of sequences encoding part of exon 3 with a neomycin resistance gene. J:15107 J:15108 J:34584 J:42756 J:57319 J:75054 J:79280 J:79805 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Argiris Efstratiadis" Replacement of sequences encoding part of exon 3 with a neomycin resistance gene. J:15107 J:15108 J:34584 J:42756 J:57319 J:75054 J:79280 J:79805 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Argiris Efstratiadis" Replacement of sequences encoding part of exon 3 with a neomycin resistance gene. J:15107 J:15108 J:34584 J:42756 J:57319 J:75054 J:79280 J:79805 MGI:2173539 coat: hair growth defects "absence of hair or abnormal onset of hair growth cycle or development\nExample: loss of hair (alopecia), abnormal hair growth cycle" IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Argiris Efstratiadis" Replacement of sequences encoding part of exon 3 with a neomycin resistance gene. J:15107 J:15108 J:34584 J:42756 J:57319 J:75054 J:79280 J:79805 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Argiris Efstratiadis" Replacement of sequences encoding part of exon 3 with a neomycin resistance gene. J:15107 J:15108 J:34584 J:42756 J:57319 J:75054 J:79280 J:79805 MGI:2173558 musculature: muscle dysmorphology "abnormal development of muscle tissue resulting in morphological abnormality\nExample: hernia, muscle dysplasia" IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Argiris Efstratiadis" Replacement of sequences encoding part of exon 3 with a neomycin resistance gene. J:15107 J:15108 J:34584 J:42756 J:57319 J:75054 J:79280 J:79805 MGI:2173561 skeletal: osteogenesis/developmental anomalies "abnormal development or remodeling of bone tissue resulting in morphological abnormality\nExample: osteoporosis, osteopetrosis" IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Argiris Efstratiadis" Replacement of sequences encoding part of exon 3 with a neomycin resistance gene. J:15107 J:15108 J:34584 J:42756 J:57319 J:75054 J:79280 J:79805 MGI:2173593 respiratory system: respiratory distress or failure/functional anomalies "inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment\nExample: gasping, irregular breathing, apnea" IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Argiris Efstratiadis" Replacement of sequences encoding part of exon 3 with a neomycin resistance gene. J:15107 J:15108 J:34584 J:42756 J:57319 J:75054 J:79280 J:79805 MGI:2173613 central nervous system: other dysmorphology "abnormal development of spinal cord or neuronal defects resulting in morphological abnormality Example: spinal cord defects, absent motor neurons" IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1, Martin Holzenberger" Exon 3 was flanked by a floxed neo cassette inserted into intron 2 and a single loxP site in intron 3. Several aberrant transcripts involving the splicing of exon 2 to cryptic slice sites in the neo transgene were identified by RT-PCR and sequence analyse s. Further analysis indicated that the readthrough of the neo transgene will result in functional ablation due to truncation or the inclusion of a random neo fragment. Mice carrying this allele were crossed with transgenic mice expressing cre recombinase via the EIIa promoter to generate Igf1r and Igf1r. J:63460 IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1.1, Martin Holzenberger" The in vivo expression of cre recombinase via the EIIa promoter resulted in the excision of the floxed neo cassette from Igf1r. Exon 3 was left intact and flanked by loxP sites. J:63460 J:76208 IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 1.2, Martin Holzenberger" The in vivo expression of cre recombinase via the EIIa promoter resulted in the excision of a floxed fragment containing a neo cassette and exon 3 from Igf1r. J:63460 J:71796 J:81182 IGF1R MGI:96433 Igf1r 6 Igf1r "targeted mutation 2, Argiris Efstratiadis" Exon 3 was flanked by a floxed neo cassette in intron 2 and a single loxP site in intron 3. J:60711 J:79805 J:80190 MGI:2173561 skeletal: osteogenesis/developmental anomalies "abnormal development or remodeling of bone tissue resulting in morphological abnormality\nExample: osteoporosis, osteopetrosis" IKKa MGI:99484 Chuk 4 Chuk "targeted mutation 1, Shizuo Akira" A neomycin resistance cassette replaced an exon encoding subdomain VI of the kinase catalytic domain. Northern and western blot analysis of embryonic fibroblast cells derived from homozygous mice confirmed that expression of the mRNA and protein was abol ished. J:54315 J:67611 IKKa MGI:99484 Chuk 4 Chuk "targeted mutation 1, Michael Karin" A LacZ gene and neomycin cassette replaced part of the exon that encodes the ATP binding site (amino acids 192-212). Western blot analysis on extracts of E18 embryos did not detect expression of protein expressed from this allele in homozygous mice. J:54316 IKKa MGI:99484 Chuk 4 Chuk "targeted mutation 1, Inder M Verma" A 3 kb region containing the promoter and exon 1 was replaced with a PGK-neo cassette via homologous recombination. The null allele was confirmed by Western blot analysis performed on primary embryonic fibroblasts cultured from homozygous mutant embryos. No protein expression was detected. J:55415 J:63443 IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Tularik Inc" "Insertion of a neomycin resistance cassette disrupted exon 2 of the gene, which encodes the ATP binding site of the kinase domain." J:55680 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Tularik Inc" "Insertion of a neomycin resistance cassette disrupted exon 2 of the gene, which encodes the ATP binding site of the kinase domain." J:55680 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Tularik Inc" "Insertion of a neomycin resistance cassette disrupted exon 2 of the gene, which encodes the ATP binding site of the kinase domain." J:55680 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Michael Karin" "A neomycin resistance cassette replaced part of the second and the entire third coding exon of the gene, which encodes for a part of the kinase domain of the protein. Western blots of protein extracts from embryonic fibroblasts from homozygous mutant mic e showed no detectable protein for the targeted gene." J:55737 J:83313 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Michael Karin" "A neomycin resistance cassette replaced part of the second and the entire third coding exon of the gene, which encodes for a part of the kinase domain of the protein. Western blots of protein extracts from embryonic fibroblasts from homozygous mutant mic e showed no detectable protein for the targeted gene." J:55737 J:83313 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Michael Karin" "A neomycin resistance cassette replaced part of the second and the entire third coding exon of the gene, which encodes for a part of the kinase domain of the protein. Western blots of protein extracts from embryonic fibroblasts from homozygous mutant mic e showed no detectable protein for the targeted gene." J:55737 J:83313 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Michael Karin" "A neomycin resistance cassette replaced part of the second and the entire third coding exon of the gene, which encodes for a part of the kinase domain of the protein. Western blots of protein extracts from embryonic fibroblasts from homozygous mutant mic e showed no detectable protein for the targeted gene." J:55737 J:83313 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Michael Karin" "A neomycin resistance cassette replaced part of the second and the entire third coding exon of the gene, which encodes for a part of the kinase domain of the protein. Western blots of protein extracts from embryonic fibroblasts from homozygous mutant mic e showed no detectable protein for the targeted gene." J:55737 J:83313 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Michael Karin" "A neomycin resistance cassette replaced part of the second and the entire third coding exon of the gene, which encodes for a part of the kinase domain of the protein. Western blots of protein extracts from embryonic fibroblasts from homozygous mutant mic e showed no detectable protein for the targeted gene." J:55737 J:83313 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Michael Karin" "A neomycin resistance cassette replaced part of the second and the entire third coding exon of the gene, which encodes for a part of the kinase domain of the protein. Western blots of protein extracts from embryonic fibroblasts from homozygous mutant mic e showed no detectable protein for the targeted gene." J:55737 J:83313 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Michael Karin" "A neomycin resistance cassette replaced part of the second and the entire third coding exon of the gene, which encodes for a part of the kinase domain of the protein. Western blots of protein extracts from embryonic fibroblasts from homozygous mutant mic e showed no detectable protein for the targeted gene." J:55737 J:83313 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Inder M Verma" "Two exons encoding amino acids 36-106 were replaced with a PGK-neo cassette via homologous recombination. The targeted mutation destroys lyine 44, a residue necessary for kinase activity. Homozygous mutant embryos were detected by PCR genotype analysis up to day E14.5. Sequence analysis of RT-PCR products from mouse embryonic fibroblasts (derived from E12.2 homozygous mutant embryos) revealed an in-frame deletion from nucleotides 106-318. However, Western blot analysis using antibodies directed against th e C-terminus of Ikbkb failed to detect protein product." J:54323 J:63443 IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 2, Michael Karin" "LoxP sites were inserted that flank exon 3, which encodes the ATP binding site of the catalytic domain. An adjacent neomycin selection cassette was removed in ES cells by transient Cre expression prior to the production of chimeric mice." J:80159 J:82995 J:83313 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1, Manolis Pasparakis" A 2 kb fragment containing exons 6 and 7 was left flanked by single loxP sites after homologous recombination of a targeting vector and subsequent cre-mediated excision of the selection cassette prior to the production of chimeric mice. J:77233 IKKb MGI:1338071 Ikbkb 7 Ikbkb "targeted mutation 1.1, Manolis Pasparakis" A single loxP site was left in place of exons 6 and 7 after cre mediated recombination of loxP sites flanking loxP sites in the germline. Protein was undetected by Western blot analysis of MEFs and splenocytes obtained from homozygous mutant mice. J:77233 INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Domenico Accili" "A premature chain termination was introduced downstream from codon 306 of exon 4 of the gene. Western blots of brain extracts from homozygous mutant mice showed no detectable insulin receptor protein. Reverse transcriptase-PCR of RNA isolated from brain , liver and skeletal muscle showed no transcript." J:33408 J:38502 J:42756 J:50589 J:59431 J:70602 J:79280 J:79560 J:80826 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Domenico Accili" "A premature chain termination was introduced downstream from codon 306 of exon 4 of the gene. Western blots of brain extracts from homozygous mutant mice showed no detectable insulin receptor protein. Reverse transcriptase-PCR of RNA isolated from brain , liver and skeletal muscle showed no transcript." J:33408 J:38502 J:42756 J:50589 J:59431 J:70602 J:79280 J:79560 J:80826 MGI:2173579 metabolism: abnormal glucose homeostasis "abnormal glucose processing and utilization\nExample: hyperglycemia, hypoglycemia" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Domenico Accili" "A premature chain termination was introduced downstream from codon 306 of exon 4 of the gene. Western blots of brain extracts from homozygous mutant mice showed no detectable insulin receptor protein. Reverse transcriptase-PCR of RNA isolated from brain , liver and skeletal muscle showed no transcript." J:33408 J:38502 J:42756 J:50589 J:59431 J:70602 J:79280 J:79560 J:80826 MGI:2173598 liver/hepatic system: dysmorphology abnormal development of liver resulting in morphological abnormality Example: hypoplastic liver INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Domenico Accili" "A premature chain termination was introduced downstream from codon 306 of exon 4 of the gene. Western blots of brain extracts from homozygous mutant mice showed no detectable insulin receptor protein. Reverse transcriptase-PCR of RNA isolated from brain , liver and skeletal muscle showed no transcript." J:33408 J:38502 J:42756 J:50589 J:59431 J:70602 J:79280 J:79560 J:80826 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Jacques Jami" "A neomycin resistance cassette replaced 3.6 kb of sequence, including exon 2. Western blot analysis did not detect the protein in liver extracts from homozygous mutant mice." J:32538 J:79588 J:80773 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Jacques Jami" "A neomycin resistance cassette replaced 3.6 kb of sequence, including exon 2. Western blot analysis did not detect the protein in liver extracts from homozygous mutant mice." J:32538 J:79588 J:80773 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Jacques Jami" "A neomycin resistance cassette replaced 3.6 kb of sequence, including exon 2. Western blot analysis did not detect the protein in liver extracts from homozygous mutant mice." J:32538 J:79588 J:80773 MGI:2173563 skeletal: extremities defects "abnormal development of limb, foot or tail bones resulting in morphological abnormality Example: absence of radius" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Jacques Jami" "A neomycin resistance cassette replaced 3.6 kb of sequence, including exon 2. Western blot analysis did not detect the protein in liver extracts from homozygous mutant mice." J:32538 J:79588 J:80773 MGI:2173578 metabolism: abnormal lipid homeostasis "abnormal lipid processing and utilization\nExample: cholesterol levels, triglyceride levels" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Jacques Jami" "A neomycin resistance cassette replaced 3.6 kb of sequence, including exon 2. Western blot analysis did not detect the protein in liver extracts from homozygous mutant mice." J:32538 J:79588 J:80773 MGI:2173579 metabolism: abnormal glucose homeostasis "abnormal glucose processing and utilization\nExample: hyperglycemia, hypoglycemia" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Jacques Jami" "A neomycin resistance cassette replaced 3.6 kb of sequence, including exon 2. Western blot analysis did not detect the protein in liver extracts from homozygous mutant mice." J:32538 J:79588 J:80773 MGI:2173598 liver/hepatic system: dysmorphology abnormal development of liver resulting in morphological abnormality Example: hypoplastic liver INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Jacques Jami" "A neomycin resistance cassette replaced 3.6 kb of sequence, including exon 2. Western blot analysis did not detect the protein in liver extracts from homozygous mutant mice." J:32538 J:79588 J:80773 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Ronald Kahn" "Exon 4 was left flanked by single loxP sites after a downstream floxed neo cassette was removed via in vitro cre mediated recombination. Deletion of the resultant floxed fragment will result in a frameshift mutation that introduces a stop codon. Translati on, if it were to occur, would putatively produce a truncated peptide consisting of 308 amino terminal residues and lacking the high affinity binding site, transmembrane domain, and kinase domain." J:51266 J:63878 J:64790 J:67938 J:72231 J:75348 J:79359 J:81895 J:82237 J:83275 MGI:2173560 musculature: no defect detected no anomaly observed in examination of muscle tissue or in physiological assessment\nExample: normal musculature INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Ronald Kahn" "Exon 4 was left flanked by single loxP sites after a downstream floxed neo cassette was removed via in vitro cre mediated recombination. Deletion of the resultant floxed fragment will result in a frameshift mutation that introduces a stop codon. Translati on, if it were to occur, would putatively produce a truncated peptide consisting of 308 amino terminal residues and lacking the high affinity binding site, transmembrane domain, and kinase domain." J:51266 J:63878 J:64790 J:67938 J:72231 J:75348 J:79359 J:81895 J:82237 J:83275 MGI:2173577 neurological/behavioral: no defect detected no anomaly observed in neurological or behavioral tests\nExample: normal behavior INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Ronald Kahn" "Exon 4 was left flanked by single loxP sites after a downstream floxed neo cassette was removed via in vitro cre mediated recombination. Deletion of the resultant floxed fragment will result in a frameshift mutation that introduces a stop codon. Translati on, if it were to occur, would putatively produce a truncated peptide consisting of 308 amino terminal residues and lacking the high affinity binding site, transmembrane domain, and kinase domain." J:51266 J:63878 J:64790 J:67938 J:72231 J:75348 J:79359 J:81895 J:82237 J:83275 MGI:2173578 metabolism: abnormal lipid homeostasis "abnormal lipid processing and utilization\nExample: cholesterol levels, triglyceride levels" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Ronald Kahn" "Exon 4 was left flanked by single loxP sites after a downstream floxed neo cassette was removed via in vitro cre mediated recombination. Deletion of the resultant floxed fragment will result in a frameshift mutation that introduces a stop codon. Translati on, if it were to occur, would putatively produce a truncated peptide consisting of 308 amino terminal residues and lacking the high affinity binding site, transmembrane domain, and kinase domain." J:51266 J:63878 J:64790 J:67938 J:72231 J:75348 J:79359 J:81895 J:82237 J:83275 MGI:2173579 metabolism: abnormal glucose homeostasis "abnormal glucose processing and utilization\nExample: hyperglycemia, hypoglycemia" INSR MGI:96575 Insr 4 Insr "targeted mutation 1, Ronald Kahn" "Exon 4 was left flanked by single loxP sites after a downstream floxed neo cassette was removed via in vitro cre mediated recombination. Deletion of the resultant floxed fragment will result in a frameshift mutation that introduces a stop codon. Translati on, if it were to occur, would putatively produce a truncated peptide consisting of 308 amino terminal residues and lacking the high affinity binding site, transmembrane domain, and kinase domain." J:51266 J:63878 J:64790 J:67938 J:72231 J:75348 J:79359 J:81895 J:82237 J:83275 MGI:2173628 other aberrant phenotype anomaly or dysmorphology not attributable to any other category Example: IRAK1 MGI:107420 Irak1 2 Irak1 "targeted mutation 1, James A Thomas" "7.0 kb of sequence was replaced by the insertion of neomycin selection cassette. The deleted region included 3.5 kb of the upstream regulatory region, all of exons 1 through 8, and a portion of exon 9. Western blot analysis of mouse embryonic fibroblasts showed an absence of encoded protein in homozygous mutant mice." J:56156 J:61586 J:82302 IRAK3 MGI:1921164 Irak3 2 Irak3 "targeted mutation 1, Richard A Flavell" "1.2 kb of sequence were replaced with a floxed neo cassette. The deleted region contained 3 exons encoding two thirds of the kinase domain. While Western blot analysis of LPS-stimulated bone marrow macrophage extracts using a carboxy terminal antibody con firmed the absence of normal protein in homozygous mutant mice, truncated transcript was detected by Northern blot analysis using an amino terminal probe. Sequence analysis of RT-PCR products revealed an in frame stop codon generated by aberrant splicing of the endogenous gene and the neo transgene." J:78189 IRR MGI:1346037 Insrr 2 Insrr "targeted mutation 1, Domenico Accili" The gene was disrupted by insertion of a PGK-neo cassette into exon 3 via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by RT-PCR analysis of kidney RNA. J:70602 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive ITK MGI:96621 Itk 3 Itk "targeted mutation 1, Dan R Littman" "Exon 4 and part of exon 3 of this gene was replaced with a PGK(G)neopA cassette via homologous recombination. A stop codon was engineered at position 78 to further ensure a null allele. PCR and Southern blot analysis confirmed the presence of the targeted mutation, and Western blot analysis determined no Itk protein was present in thymocytes of homozygous mutant animals." J:31230 J:54449 J:72934 J:83276 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ITK MGI:96621 Itk 3 Itk "targeted mutation 1, Dan R Littman" "Exon 4 and part of exon 3 of this gene was replaced with a PGK(G)neopA cassette via homologous recombination. A stop codon was engineered at position 78 to further ensure a null allele. PCR and Southern blot analysis confirmed the presence of the targeted mutation, and Western blot analysis determined no Itk protein was present in thymocytes of homozygous mutant animals." J:31230 J:54449 J:72934 J:83276 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ITK MGI:96621 Itk 3 Itk "targeted mutation 1, Dan R Littman" "Exon 4 and part of exon 3 of this gene was replaced with a PGK(G)neopA cassette via homologous recombination. A stop codon was engineered at position 78 to further ensure a null allele. PCR and Southern blot analysis confirmed the presence of the targeted mutation, and Western blot analysis determined no Itk protein was present in thymocytes of homozygous mutant animals." J:31230 J:54449 J:72934 J:83276 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" ITK MGI:96621 Itk 3 Itk "targeted mutation 1, Dan R Littman" "Exon 4 and part of exon 3 of this gene was replaced with a PGK(G)neopA cassette via homologous recombination. A stop codon was engineered at position 78 to further ensure a null allele. PCR and Southern blot analysis confirmed the presence of the targeted mutation, and Western blot analysis determined no Itk protein was present in thymocytes of homozygous mutant animals." J:31230 J:54449 J:72934 J:83276 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" ITK MGI:96621 Itk 3 Itk "targeted mutation 1, Dan R Littman" "Exon 4 and part of exon 3 of this gene was replaced with a PGK(G)neopA cassette via homologous recombination. A stop codon was engineered at position 78 to further ensure a null allele. PCR and Southern blot analysis confirmed the presence of the targeted mutation, and Western blot analysis determined no Itk protein was present in thymocytes of homozygous mutant animals." J:31230 J:54449 J:72934 J:83276 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" ITK MGI:96621 Itk 3 Itk "targeted mutation 1, Dan R Littman" "Exon 4 and part of exon 3 of this gene was replaced with a PGK(G)neopA cassette via homologous recombination. A stop codon was engineered at position 78 to further ensure a null allele. PCR and Southern blot analysis confirmed the presence of the targeted mutation, and Western blot analysis determined no Itk protein was present in thymocytes of homozygous mutant animals." J:31230 J:54449 J:72934 J:83276 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" ITK MGI:96621 Itk 3 Itk "targeted mutation 1, Dan R Littman" "Exon 4 and part of exon 3 of this gene was replaced with a PGK(G)neopA cassette via homologous recombination. A stop codon was engineered at position 78 to further ensure a null allele. PCR and Southern blot analysis confirmed the presence of the targeted mutation, and Western blot analysis determined no Itk protein was present in thymocytes of homozygous mutant animals." J:31230 J:54449 J:72934 J:83276 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" ITK MGI:96621 Itk 3 Itk "targeted mutation 1, Leslie Berg" "The kinase domain of this gene (amino acids 476-543) spanning from the middle of exon 10 to exon 12 was replaced with a PGK-neo cassette via homologous recombination. Protein product was absent in lymph nodes, spleen, and thymus of homozygous mutant anim als via Western blot analysis." J:48231 J:74774 JAK1 MGI:96628 Jak1 2 Jak1 "targeted mutation 1, Robert D Schreiber" The gene was disrupted by replacement of exons 1 and 2 and 1.6 kb of 5' upstream sequence with a neomycin resistance cassette via homologous recombination. Absence of gene expression was confirmed by Western blot analysis of embryonic fibroblasts derived from homozygous mutant embryos. J:47300 J:81243 JAK2 MGI:96629 Jak2 2 Jak2 "targeted mutation 1, James N Ihle" The function of this gene was disrupted by replacement of exon 2 with a neomycin resistance gene via homologous recombination. Homozygous mutant embryos were detected by PCR analysis at stage E10-E12. Western blot and immunoprecipitation yielded negative results in E10-E12 homozygous mutant embryos. J:47299 J:75082 JAK3 MGI:99928 Jak3 2 Jak3 "targeted mutation 1, Leslie J Berg" "A neomycin resistance cassette replaced a 0.6 kb fragment of the gene, which contains sequences encoding subdomains I to IV of the kinase domain. Protein immunoblots of lysates from bone marrow, spleen, and thymus showed no targeted protein." J:29722 J:74723 J:78457 MGI:2173610 immune system: no defect detected no anomaly observed in examination of immune system tissues or function Example: normal immune system JAK3 MGI:99928 Jak3 2 Jak3 "targeted mutation 1, Leslie J Berg" "A neomycin resistance cassette replaced a 0.6 kb fragment of the gene, which contains sequences encoding subdomains I to IV of the kinase domain. Protein immunoblots of lysates from bone marrow, spleen, and thymus showed no targeted protein." J:29722 J:74723 J:78457 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" JAK3 MGI:99928 Jak3 2 Jak3 "targeted mutation 1, Leslie J Berg" "A neomycin resistance cassette replaced a 0.6 kb fragment of the gene, which contains sequences encoding subdomains I to IV of the kinase domain. Protein immunoblots of lysates from bone marrow, spleen, and thymus showed no targeted protein." J:29722 J:74723 J:78457 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" JAK3 MGI:99928 Jak3 2 Jak3 "targeted mutation 1, Leslie J Berg" "A neomycin resistance cassette replaced a 0.6 kb fragment of the gene, which contains sequences encoding subdomains I to IV of the kinase domain. Protein immunoblots of lysates from bone marrow, spleen, and thymus showed no targeted protein." J:29722 J:74723 J:78457 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" JAK3 MGI:99928 Jak3 2 Jak3 "targeted mutation 1, Leslie J Berg" "A neomycin resistance cassette replaced a 0.6 kb fragment of the gene, which contains sequences encoding subdomains I to IV of the kinase domain. Protein immunoblots of lysates from bone marrow, spleen, and thymus showed no targeted protein." J:29722 J:74723 J:78457 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" JAK3 MGI:99928 Jak3 2 Jak3 "targeted mutation 1, Leslie J Berg" "A neomycin resistance cassette replaced a 0.6 kb fragment of the gene, which contains sequences encoding subdomains I to IV of the kinase domain. Protein immunoblots of lysates from bone marrow, spleen, and thymus showed no targeted protein." J:29722 J:74723 J:78457 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" JAK3 MGI:99928 Jak3 2 Jak3 "targeted mutation 1, Leslie J Berg" "A neomycin resistance cassette replaced a 0.6 kb fragment of the gene, which contains sequences encoding subdomains I to IV of the kinase domain. Protein immunoblots of lysates from bone marrow, spleen, and thymus showed no targeted protein." J:29722 J:74723 J:78457 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" JNK1 MGI:1346861 Mapk8 3 Mapk8 "targeted mutation 1, Richard Flavell" A hygromycin resistance cassette replaced a 5.5 kb genomic fragment containing four exons of the gene. Western blot analysis on extracts derived from embryonic fibroblasts of homozygous mice confirmed that no detectable protein was expressed from this al lele. J:51510 J:54653 J:61895 J:75228 JNK1 MGI:1346861 Mapk8 3 Mapk8 "targeted mutation 1, Erwin F Wagner" "A 3' region of exon 2, which encodes a portion of the kinase domain, was deleted by the in frame insertion of a cassette containing lacZ along with neo. The absence of both known isoforms encoded by the endogenous locus was confirmed by Western blot analy sis of homozygous mutant mouse embyronic fibroblasts." J:58622 J:78190 J:80452 JNK2 MGI:1346862 Mapk9 3 Mapk9 "targeted mutation 1, Richard Flavell" "A neomycin selection cassette replaced a genomic fragment containing three coding exons containing sequences required for protein kinase activity. RT-PCR analysis on RNA derived from thymus of homozygous mice confirmed that no detectable transcript is pr oduced from this allele. Western blot analysis on brain, thymocyte and T cells derived from homozygous mice confirmed that no protein was expressed from this allele." J:50628 J:54653 J:61895 J:83385 JNK2 MGI:1346862 Mapk9 3 Mapk9 "targeted mutation 1, Michael Karin" "Part of exon 1 and exon 2 were replaced with a lacZ-neo cassette via homologous recombination resulting in the in frame fusion of the first 32 amino acids with lacZ and deletion of part of the kinase domain. Northern blot analysis of homozygous mutant ani mals did not detect either full length or truncated transcripts. Western blot analysis of mouse embryonic fibroblasts cultured from homozygous mutants did not detect either isoform (46 kDa, 55kDa) of protein product." J:58622 J:78129 J:80452 JNK3 MGI:1346863 Mapk10 2 Mapk10 "targeted mutation 1, Richard A Flavell" "A neomycin resistance cassette replaced a genomic fragment containing sequences corresponding to amino acids 211-267, which encode the tripeptide dual phosphorylation motif required for protein kinase activity. Northern blot and RT-PCR analysis on total brain RNA derived from homozygous mice demonstrated that no detectable transcript is produced from this allele. Enzymatic activity assays on extracts derived from hippocampus of homozygous mice confirmed that no functional protein was expressed from this allele." J:43658 J:54653 J:83385 KDR MGI:96683 Kdr 3 Kdr "targeted mutation 1, Janet Rossant" "Insertion of an in-frame lacZ gene and PGK-neomycin resistance cassette replaced the translated portion of the first coding exon and the proximal part of the next intron, and placed lacZ under the transcriptional control of the endogenous promoter. Neithe r RT-PCR using total RNA nor Western blot analysis using a carboxy terminal antibody detected gene expression in E8.5 homozygous mutant embryos." J:26846 J:61488 J:72168 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation KDR MGI:96683 Kdr 3 Kdr "targeted mutation 1, Janet Rossant" "Insertion of an in-frame lacZ gene and PGK-neomycin resistance cassette replaced the translated portion of the first coding exon and the proximal part of the next intron, and placed lacZ under the transcriptional control of the endogenous promoter. Neithe r RT-PCR using total RNA nor Western blot analysis using a carboxy terminal antibody detected gene expression in E8.5 homozygous mutant embryos." J:26846 J:61488 J:72168 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation KDR MGI:96683 Kdr 3 Kdr "targeted mutation 1, Janet Rossant" "Insertion of an in-frame lacZ gene and PGK-neomycin resistance cassette replaced the translated portion of the first coding exon and the proximal part of the next intron, and placed lacZ under the transcriptional control of the endogenous promoter. Neithe r RT-PCR using total RNA nor Western blot analysis using a carboxy terminal antibody detected gene expression in E8.5 homozygous mutant embryos." J:26846 J:61488 J:72168 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" KDR MGI:96683 Kdr 3 Kdr "targeted mutation 1, Janet Rossant" "Insertion of an in-frame lacZ gene and PGK-neomycin resistance cassette replaced the translated portion of the first coding exon and the proximal part of the next intron, and placed lacZ under the transcriptional control of the endogenous promoter. Neithe r RT-PCR using total RNA nor Western blot analysis using a carboxy terminal antibody detected gene expression in E8.5 homozygous mutant embryos." J:26846 J:61488 J:72168 MGI:2173583 hematology: hematopoietic anomalies "abnormal development of the various types of blood cells resulting in morphological abnormality\nExample: abnormal platelets, absence of granulocytes" KDR MGI:96683 Kdr 3 Kdr "targeted mutation 1, Janet Rossant" "Insertion of an in-frame lacZ gene and PGK-neomycin resistance cassette replaced the translated portion of the first coding exon and the proximal part of the next intron, and placed lacZ under the transcriptional control of the endogenous promoter. Neithe r RT-PCR using total RNA nor Western blot analysis using a carboxy terminal antibody detected gene expression in E8.5 homozygous mutant embryos." J:26846 J:61488 J:72168 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" KDR MGI:96683 Kdr 3 Kdr "targeted mutation 1, Janet Rossant" "Insertion of an in-frame lacZ gene and PGK-neomycin resistance cassette replaced the translated portion of the first coding exon and the proximal part of the next intron, and placed lacZ under the transcriptional control of the endogenous promoter. Neithe r RT-PCR using total RNA nor Western blot analysis using a carboxy terminal antibody detected gene expression in E8.5 homozygous mutant embryos." J:26846 J:61488 J:72168 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" KDR MGI:96683 Kdr 3 Kdr "targeted mutation 1, Thomas N Sato" A knock-in allele was created by replacement of exon 1 with an NLS-cre-PGK-neo cassette via homologous recombination. J:82684 KIT MGI:96677 Kit 76 Kit dominant spotting Kit is a 78-amino acid deletion that includes the transmembrane domain J:10528 J:12308 J:24076 J:61520 J:6393 J:70009 J:70182 J:72195 J:72582 J:78651 J:78659 J:78906 J:80500 J:80620 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive KIT MGI:96677 Kit 76 Kit dominant spotting Kit is a 78-amino acid deletion that includes the transmembrane domain J:10528 J:12308 J:24076 J:61520 J:6393 J:70009 J:70182 J:72195 J:72582 J:78651 J:78659 J:78906 J:80500 J:80620 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" KIT MGI:96677 Kit 76 Kit dominant spotting Kit is a 78-amino acid deletion that includes the transmembrane domain J:10528 J:12308 J:24076 J:61520 J:6393 J:70009 J:70182 J:72195 J:72582 J:78651 J:78659 J:78906 J:80500 J:80620 MGI:2173541 coat: color anomalies "irregular or unusual pigmentation pattern of the hair\nExample: spotting, diluted color" KIT MGI:96677 Kit 76 Kit dominant spotting Kit is a 78-amino acid deletion that includes the transmembrane domain J:10528 J:12308 J:24076 J:61520 J:6393 J:70009 J:70182 J:72195 J:72582 J:78651 J:78659 J:78906 J:80500 J:80620 MGI:2173584 hematology: abnormal red blood cell count deficiency in the maintenance of erythrocytes or oxygen-transporting material in the blood Example: anemia KIT MGI:96677 Kit 76 Kit dominant spotting Kit is a 78-amino acid deletion that includes the transmembrane domain J:10528 J:12308 J:24076 J:61520 J:6393 J:70009 J:70182 J:72195 J:72582 J:78651 J:78659 J:78906 J:80500 J:80620 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" KIT MGI:96677 Kit 76 Kit dominant spotting Kit is a 78-amino acid deletion that includes the transmembrane domain J:10528 J:12308 J:24076 J:61520 J:6393 J:70009 J:70182 J:72195 J:72582 J:78651 J:78659 J:78906 J:80500 J:80620 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" KIT MGI:96677 Kit 76 Kit dominant spotting Kit is a 78-amino acid deletion that includes the transmembrane domain J:10528 J:12308 J:24076 J:61520 J:6393 J:70009 J:70182 J:72195 J:72582 J:78651 J:78659 J:78906 J:80500 J:80620 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" KIT MGI:96677 Kit 76 Kit dominant spotting 19 Harwell J:7681 KIT MGI:96677 Kit 76 Kit dominant spotting 17 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 18 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 20 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 24 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 25 Jackson J:64109 KIT MGI:96677 Kit 76 Kit dominant spotting 34 Jackson J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 35 Jackson J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 37 Jackson "A G to A point mutation at nucleotide 1772 results in a glutamic acid to lysine substitution at amino acid 582, which is 4 amino acids from the N-terminus of the kinase domain. (see reference J:10528)" J:10528 J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 39 Jackson J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 40 Jackson J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 41 Jackson "A G to A point mutation at nucleotide 2519 results in a valine to methionine substitution at amino acid 831, which is a highly conserved region of the kinase. (see reference J:10528)" J:10528 J:24351 J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 42 Jackson J:36829 J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 43 Jackson J:27512 KIT MGI:96677 Kit 76 Kit dominant spotting 44 Jackson J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 45 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 49 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 50 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 55 Jackson J:16313 KIT MGI:96677 Kit 76 Kit dominant spotting 56 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 57 Jackson J:30778 J:38382 KIT MGI:96677 Kit 76 Kit dominant spotting 62 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 73 Jackson J:16572 KIT MGI:96677 Kit 76 Kit Ames dominant spotting J:28886 KIT MGI:96677 Kit 76 Kit Ballantyne's dominant spotting J:13078 KIT MGI:96677 Kit 76 Kit banded J:14074 J:38382 KIT MGI:96677 Kit 76 Kit Cattanach's dominant spotting J:7216 KIT MGI:96677 Kit 76 Kit extreme dominant spotting J:13765 KIT MGI:96677 Kit 76 Kit fertile dominant spotting J:6187 KIT MGI:96677 Kit 76 Kit Jay's dominant spotting J:3398 KIT MGI:96677 Kit 76 Kit panda white J:13655 KIT MGI:96677 Kit 76 Kit Strong's dominant spotting J:15330 KIT MGI:96677 Kit 76 Kit sash J:24351 J:6857 KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2173541 coat: color anomalies "irregular or unusual pigmentation pattern of the hair\nExample: spotting, diluted color" KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2173555 ears: auditory defects/deafness "reduced ability or inability to perceive sound\nExample: deafness, hearing impairment" KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2173556 ears: dysmorphology "abnormal development of auditory tissue resulting in morphological abnormality\nExample: small ears, inner ear abnormalities" KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2173584 hematology: abnormal red blood cell count deficiency in the maintenance of erythrocytes or oxygen-transporting material in the blood Example: anemia KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2173601 digestive system: dysmorphology "abnormal development of any region of the digestive system resulting in morphological abnormality Example: rectal prolapse, abnormal intestinal epithelium" KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2173622 reproductive system: no defect detected "no anomaly observed in examination of reproductive system tissues or function Example: normal testes, normal ovaries" KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" KIT MGI:96677 Kit 76 Kit viable dominant spotting A C to T point mutation at nucleotide 2007 results in a threonine to methionine substitution at amino acid 660. (see reference J:10528) J:10528 J:22613 J:24076 J:24351 J:2447 J:24830 J:36414 J:47052 J:48589 J:48591 J:48594 J:5179 J:61520 J:6393 J:70182 J:72195 J:72582 J:78323 J:78651 J:78659 J:78906 J:80500 J:80529 J:80620 J:81387 J:82128 J:82735 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" KIT MGI:96677 Kit 76 Kit dominant spotting x J:3398 J:48589 J:48591 J:48594 KIT MGI:96677 Kit 76 Kit tox dominant spotting KIT MGI:96677 Kit 76 Kit dominant spotting 2 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 38 Jackson J:6571 KIT MGI:96677 Kit 76 Kit dominant spotting 51 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 54 Jackson J:78805 KIT MGI:96677 Kit 76 Kit dominant spotting 58 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 59 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 60 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 64 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 65 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 66 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 67 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 69 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 70 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 71 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 74 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 76 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 78 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 79 Jackson J:30778 KIT MGI:96677 Kit 76 Kit dominant spotting 80 Jackson J:23000 KIT MGI:96677 Kit 76 Kit dominant spotting 81 Jackson J:23000 KIT MGI:96677 Kit 76 Kit viable dominant spotting 83 Jackson J:28843 KIT MGI:96677 Kit 76 Kit dominant spotting 36 Harwell J:20782 KIT MGI:96677 Kit 76 Kit Eiche's dominant spotting J:28100 KIT MGI:96677 Kit 76 Kit Kawasaki dominant spotting J:27513 KIT MGI:96677 Kit 76 Kit Nagoya dominant spotting J:12107 KIT MGI:96677 Kit 76 Kit dominant spotting 28 Harwell J:18375 KIT MGI:96677 Kit 76 Kit dominant spotting 29 Harwell J:18375 KIT MGI:96677 Kit 76 Kit dominant spotting 27 Harwell J:13934 KIT MGI:96677 Kit 76 Kit dominant spotting rio J:29400 KIT MGI:96677 Kit 76 Kit dominant spotting 36 Jackson J:6571 KIT MGI:96677 Kit 76 Kit spotted sterile male J:14020 KIT MGI:96677 Kit 76 Kit dominant spotting 39 Harwell This allel is defined by a noncomplementation test. J:63816 MGI:2173541 coat: color anomalies "irregular or unusual pigmentation pattern of the hair\nExample: spotting, diluted color" KIT MGI:96677 Kit 76 Kit dominant spotting 40 Harwell This allele is defined by a noncomplementation test. J:63816 MGI:2173541 coat: color anomalies "irregular or unusual pigmentation pattern of the hair\nExample: spotting, diluted color" KIT MGI:96677 Kit 76 Kit dominant white spotting 82 Jackson J:75289 MGI:2173541 coat: color anomalies "irregular or unusual pigmentation pattern of the hair\nExample: spotting, diluted color" KIT MGI:96677 Kit 76 Kit dominant white spotting 82 Jackson J:75289 MGI:2173544 skin: pigmentation anomalies "variation of skin color or complexion\nExample: reddish skin, pale skin" KIT MGI:96677 Kit 76 Kit "targeted mutation 1, Peter Besmer" "Using a knock-in strategy, tyrosine 719 was changed to a phenylalanine, Y719F. The mutation was designed to prevent the binding of SH2 domain proteins including the p85 subunit of the PI 3-kinase and to abolish subsequent signaling events. Retention of the neomycin caused a 75% reduction in kit expression." J:61141 MGI:2173541 coat: color anomalies "irregular or unusual pigmentation pattern of the hair\nExample: spotting, diluted color" KIT MGI:96677 Kit 76 Kit "targeted mutation 1, Peter Besmer" "Using a knock-in strategy, tyrosine 719 was changed to a phenylalanine, Y719F. The mutation was designed to prevent the binding of SH2 domain proteins including the p85 subunit of the PI 3-kinase and to abolish subsequent signaling events. Retention of the neomycin caused a 75% reduction in kit expression." J:61141 MGI:2173544 skin: pigmentation anomalies "variation of skin color or complexion\nExample: reddish skin, pale skin" KIT MGI:96677 Kit 76 Kit "targeted mutation 1, Peter Besmer" "Using a knock-in strategy, tyrosine 719 was changed to a phenylalanine, Y719F. The mutation was designed to prevent the binding of SH2 domain proteins including the p85 subunit of the PI 3-kinase and to abolish subsequent signaling events. Retention of the neomycin caused a 75% reduction in kit expression." J:61141 MGI:2173584 hematology: abnormal red blood cell count deficiency in the maintenance of erythrocytes or oxygen-transporting material in the blood Example: anemia KIT MGI:96677 Kit 76 Kit "targeted mutation 1, Peter Besmer" "Using a knock-in strategy, tyrosine 719 was changed to a phenylalanine, Y719F. The mutation was designed to prevent the binding of SH2 domain proteins including the p85 subunit of the PI 3-kinase and to abolish subsequent signaling events. Retention of the neomycin caused a 75% reduction in kit expression." J:61141 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" KIT MGI:96677 Kit 76 Kit "targeted mutation 1, Peter Besmer" "Using a knock-in strategy, tyrosine 719 was changed to a phenylalanine, Y719F. The mutation was designed to prevent the binding of SH2 domain proteins including the p85 subunit of the PI 3-kinase and to abolish subsequent signaling events. Retention of the neomycin caused a 75% reduction in kit expression." J:61141 MGI:2173628 other aberrant phenotype anomaly or dysmorphology not attributable to any other category Example: KIT MGI:96677 Kit 76 Kit "targeted mutation 1.1, Peter Besmer" "This allele is a derivative of Kit in which a Cre mediated recombination event removed the neomycin cassette. Excision of the neomycin cassette restores normal Kit expression. The resulting heritable mutation, Y719F, was designed to prevent the binding of SH2 domain proteins including the p85 subunit of the PI 3-kinase and to abolish subsequent signaling events." J:61141 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" KIT MGI:96677 Kit 76 Kit "targeted mutation 1, Tony Hunter" An engineered point mutation in codon 719 resulted in a phenylalanine to tyrosine substitution. Western blot analysis showed the level of mutant protein in homozygous mutant mice to be similar to that of the wild type protein in wild type mice. PI 3'-kina se activity was determined to be reduced by approximately 90% via assays of the PI 3'-kinase dependent activation of Akt. J:60192 KIT MGI:96677 Kit 76 Kit "targeted mutation 1, Jean-Jacques Panthier" The gene was disrupted by replacement of exon 1 (codons 7-22) and 200 bp of intron 1 with a lacZ-neo cassette via homologous recombination. No residual protein product or mRNA was detected in homozygous mutant animals. J:36230 KSR1 MGI:105051 Ksr 2 Ksr "targeted mutation 1, Andrey S Shaw" "The exon encoding the CA2 domain was replaced by a neomycin selection cassette inserted by homologous recombination. While RT-PCR demonstrated that the neo cassette could be excised, Western blot analysis using both amino and carboxy terminal antibodies s howed an absence of both normal truncated protein." J:75739 LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173624 glands: functional anomalies "altered glandular secretion not due to anatomical defect Example: elevated serum levels of ACTH, hypersecretion of cortisol" LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173626 tumorigenesis: altered tumor susceptibility/resistance "greater than or less than the average number of tumors, usually a specific type, arising in a given strain Example: high incidence of leukemia, adenomas, melanomas, etc." LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" LATS1 MGI:1333883 Lats1 2 Lats1 "targeted mutation 1, Tian Xu" A neomycin resistance cassette replaced sequence encoding amino acids 756 - 1130 of the protein. Immunoprecipitation and Western blots of embryonic fibroblasts lysates from homozygous mutant mice showed no detectable protein for the targeted gene. J:52536 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2173610 immune system: no defect detected no anomaly observed in examination of immune system tissues or function Example: normal immune system LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" LCK MGI:96756 Lck 2 Lck "targeted mutation 1, Tak Mak" A neomycin resistance cassette was inserted into exon 12 of the gene. Western blots of lysates from thymus or lymph nodes showed no detectable protein from the targeted gene. J:1119 J:28295 J:49877 J:71151 J:74698 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" LIMK2 MGI:1197517 Limk2 4 Limk2 "gene trap mutation 6, Lexicon Genetics Inc" J:46940 LIMK2 MGI:1197517 Limk2 4 Limk2 "targeted mutation 1, Toshikazu Nakamura" Insertion of a floxed PGK-neomycin resistance cassette into the intron between exon 1t and exon 6 placed a third loxP site upstream of exon 3. J:73966 LIMK2 MGI:1197517 Limk2 4 Limk2 "targeted mutation 1.1, Toshikazu Nakamura" "This allele is a derivative of Limk2. Cre-mediated recombination in vivo under control of the ACTB promoter excised the inserted neo cassette and exons 3, 4, 5, and 1t in the germline. Exons 3-5 encode the second LIM domain and part of the PDZ do main. Exon 1t encodes the initiation exon for the testis specific isoform of the protein. Western blot analysis did not detect protein in fibroblast cells derived from homozygous mutant embryos. Northern blot analysis of testis did not detect any mRNA in homozygous mutant mice." J:73966 LKB1 MGI:1341870 Stk11 8 Stk11 "targeted mutation 1, Makoto M Taketo" Exons 2-4 were replaced with a neo resistance cassette via homologous recombination. Mutant transcripts from heterozygous mutant animals were analyzed via RT-PCR. J:76202 J:78502 LKB1 MGI:1341870 Stk11 8 Stk11 "targeted mutation 1, Tomi P Makela" Exons 2 through 7 were deleted by the insertion of a neomycin selection cassette by homologous recombination. J:70892 LKB1 MGI:1341870 Stk11 8 Stk11 "targeted mutation 2, Tomi P Makela" Sequence encoding exons 2 through 7 were flanked by single loxP sites inserted into introns 1 and 7 in inverse orientations. A neo cassette was also inserted immediately downstream of the intron 7 loxP site. Mice carrying this allele were bred with transg enic mice expressing cre recombinase to generate Stk11. J:70892 LKB1 MGI:1341870 Stk11 8 Stk11 "targeted mutation 2.1, Tomi P Makela" Sequence containing exons 2 through 7 was inverted by cre mediated recombination of oppositely oriented loxP sites. J:70892 LKB1 MGI:1341870 Stk11 8 Stk11 "targeted mutation 1, Ronald DePinho" "Exons 3 through 6 were flanked by single loxP sites inserted into introns 2 and 6. In addition a neo cassette flanked by frt sites was inserted into intron 2, downstream of the loxP site. Mice carrying this allele were used to generate Stk11 and Stk11." J:78818 LKB1 MGI:1341870 Stk11 8 Stk11 "targeted mutation 1.1, Ronald DePinho" The frt flanked neo cassette was excised from intron 2 of Stk11 by the in vivo expression of flp recombinase. Exons 3 through 6 were left flanked by single loxP sites in introns 2 and 6. J:78818 LKB1 MGI:1341870 Stk11 8 Stk11 "targeted mutation 1.2, Ronald DePinho" Exons 3 through 6 were excised from Stk11 via the in vivo expression of cre recombinase. Protein was undetected by Western blot analysis of mouse embyronic fibroblasts derived from homozygous mutant mice. J:78818 LOK MGI:1099439 Stk10 2 Stk10 "targeted mutation 1, Hajime Karasuyama" The gene was disrupted by replacement of exon 1 with a neomycin resistance cassette via homologous recombination. Western blot analysis of splenocytes from homozygous mutant animals confirmed the absence of gene expression. J:60738 LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Philippe Soriano" A neomycin resistance cassette replaced exons 3 - 7 of the gene. No transcript for the targeted gene was detected on Northern blots from homozygous mutant mouse bone marrow cells. J:42037 J:50288 J:70417 J:71174 J:75323 J:78300 J:78301 J:78302 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Margaret Hibbs" Insertion of an IRES-neomycin resistance cassette into exon 13 introduced a Tyr508Phe point mutation. Northern blot analysis of bone marrow macrophages detected expression of a truncated message in homozygous mutant mice. Immunoblot analysis detected redu ced levels of protein in bone marrow macrophages from homozygous mutant mice. J:72269 LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Ashley R Dunn" "A PGK-neomycin resistance cassette replaced ~11.5kb of sequence, including the promoter and associated regulatory sequences. RT-PCR analysis of liver did not detect wild type transcript in homozygous mutant mice. Immunoprecipitation and kinase assays of l iver and spleen did not detect LYN autokinase activity in homozygous mutant mice." J:29356 LYN MGI:96892 Lyn 5 Lyn "targeted mutation 1, Tadashi Yamamoto" "Exon 4, which encodes th amino terminal portion of the SH3 domain, was disrupted by the insertion of neomycin selection cassette. The absence of both isoforms was verified by Western blot analysis of spleen and cerebellum tissue obtained from homozygous m utant mice." J:29751 J:42928 J:47277 MAK MGI:96913 Mak 2 Mak "targeted mutation 1, Yoichi Shinkai" Exons 5-8 were replaced with a neo cassette via homologous recombination resulting in deletion of 45% of the protein product including a kinase domain and PQ-rich domain. Western blot of testicular samples from homozygous mutant animals verified the absen ce of protein and enzyme assays were negative for kinase activity. J:76245 MAP2K1 MGI:1346866 Map2k1 2 Map2k1 "gene trap mutation J2, Jean Charron" "A gene trap vector inserted into intron 1, causing the expression of an abnormal transcript that is interrupted after codon 26. Western blot analysis on extracts of embryos or embryonic fibroblasts derived from homozygous embryos confirmed that no detect able protein was expressed from this allele." J:54197 MAP2K2 MGI:1346867 Map2k2 2 Map2k2 "targeted mutation 1, Matthias Gaestel" "The catalytic domain of this gene, encompassing subdomains V and VI, was replaced with a neomycin resistance cassette via homologous recombination which introduced stop codons in all 3 reading frames and results in a truncated kinase lacking amino acids 1 30-383. Northern blot of spleen from homozygous mutant animals verified the absence of gene expression and kinase assay of mouse embryonic fibroblasts verified the absence of enzyme activity." J:59678 J:76161 MAP2K3 MGI:1346868 Map2k3 2 Map2k3 "targeted mutation 1, Richard A Flavell" "A neomycin resistance cassette replaced a 1.5kb region that includes exons 8 and 9, which encode amino acids 217-221 of the protein. This region includes the sequences containing the dual phosphorylation sites (serine and threonine) that are required for activation of the protein. Northern blot and Western blot analyses did not detect expression from this allele in homozygous mutant mice." J:54078 J:54309 MAP2K4 MGI:1346869 Map2k4 4 Map2k4 "targeted mutation 1, Josef M Penninger" Exon 2 was disrupted by the insertion of a neomycin selection cassette. Neither transcript nor protein was detected in homozygous mutant ES cells. J:51597 J:77850 J:77941 J:77942 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation MAP2K4 MGI:1346869 Map2k4 4 Map2k4 "targeted mutation 1, Josef M Penninger" Exon 2 was disrupted by the insertion of a neomycin selection cassette. Neither transcript nor protein was detected in homozygous mutant ES cells. J:51597 J:77850 J:77941 J:77942 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation MAP2K4 MGI:1346869 Map2k4 4 Map2k4 "targeted mutation 1, Josef M Penninger" Exon 2 was disrupted by the insertion of a neomycin selection cassette. Neither transcript nor protein was detected in homozygous mutant ES cells. J:51597 J:77850 J:77941 J:77942 MGI:2173584 hematology: abnormal red blood cell count deficiency in the maintenance of erythrocytes or oxygen-transporting material in the blood Example: anemia MAP2K4 MGI:1346869 Map2k4 4 Map2k4 "targeted mutation 1, Josef M Penninger" Exon 2 was disrupted by the insertion of a neomycin selection cassette. Neither transcript nor protein was detected in homozygous mutant ES cells. J:51597 J:77850 J:77941 J:77942 MGI:2173598 liver/hepatic system: dysmorphology abnormal development of liver resulting in morphological abnormality Example: hypoplastic liver MAP2K4 MGI:1346869 Map2k4 4 Map2k4 "targeted mutation 1, Leonard I Zon" Insertion of a neomycin resistance cassette disrupted two exons encoding part of the catalytic domain of the protein. Western blots of embryonic fibroblasts from homozygous mutant mice showed no detectable protein for the targeted gene. J:48772 J:77851 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation MAP2K4 MGI:1346869 Map2k4 4 Map2k4 "targeted mutation 1, Leonard I Zon" Insertion of a neomycin resistance cassette disrupted two exons encoding part of the catalytic domain of the protein. Western blots of embryonic fibroblasts from homozygous mutant mice showed no detectable protein for the targeted gene. J:48772 J:77851 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation MAP2K4 MGI:1346869 Map2k4 4 Map2k4 "targeted mutation 1, Leonard I Zon" Insertion of a neomycin resistance cassette disrupted two exons encoding part of the catalytic domain of the protein. Western blots of embryonic fibroblasts from homozygous mutant mice showed no detectable protein for the targeted gene. J:48772 J:77851 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" MAP2K4 MGI:1346869 Map2k4 4 Map2k4 "targeted mutation 1, Richard A Flavell" A 3.5 kb fragment containg coding sequences for amino acids 211-268 was replaced with a neomycin selection cassette. These sequences include essential phosphorylation sites for protein activation. Western blot analysis on homozygous ES cells demonstrate d that no detectable protein was made from this allele. J:77628 J:77851 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation MAP2K7 MGI:1346871 Map2k7 2 Map2k7 "targeted mutation 1, Richard A Flavell" "3 exons were replaced by a floxed puromycin selection cassette, which was subsequently excised via transient transfection of ES cells with a cre expression vector. Western blot analysis of homozygous mutant ES cells showed an absence of encoded protein." J:61895 MAP3K1 MGI:1346872 Map3k1 2 Map3k1 "targeted mutation 1, Gary L Johnson" "A neomycin resistance gene in the antisense orientation replaced 132 codons, including the ATG start site in exon 1." J:62909 J:78068 MAP3K2 MGI:1346873 Map3k2 2 Map3k2 "targeted mutation 1, Bing Su" Sequence encoding 192 amino acids of the catalytic domain was deleted by the insertion of a cassette containing IRES-lacZ and neo genes. The absence of truncated protein in mutant mice was determined by Western blot analysis using antibodies directed agai nst the amino terminal and the catalytic domains. Staining identified expression of the lacZ transgene. J:78072 MAP3K3 MGI:1346874 Map3k3 2 Map3k3 "targeted mutation 1, Bing Su" A lacZ gene followed by a neomycin resistance cassette replaced part of the coding sequences of the gene. J:60748 MARK2 MGI:99638 Mark2 2 Mark2 "targeted mutation 1, Helen Piwnica-Worms" "The insertion of a neomycin selection cassette deleted sequence from exons 2, 3, and 4. The replaced region encoded residues of the glycine-rich motif involved in MgATP-binding. Western blot analysis of extracts from fibroblasts showed an absence of all k nown isoforms produced from the targeted allele in homozygous mutant embryos. Immunoprecipitates of tissue extracts derived from homozygous mutant mice failed to phosphorylate GST-Cdc25C in vitro, incdicating ablation of kinase activity." J:68830 MarkmA3 MGI:1351487 Smok2 2 Smok2 "t, wild 5 (lethal group)" J:58548 MarkmA5 MGI:1351488 Smok1 2 Smok1 "t, wild 12" J:58548 MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173598 liver/hepatic system: dysmorphology abnormal development of liver resulting in morphological abnormality Example: hypoplastic liver MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Greg Lemke" "A nemomycin selection cassette replaced a genomic fragment containing exon 18 of the gene, which encodes part of the kinase domain known to be essential for tyrosine kinase function. An RNase protection assay demonstrated that a mutant transcript was exp ressed that lacked the deleted sequences." J:54681 J:70420 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" MER MGI:96965 Mertk 3 Mertk "targeted mutation 1, Glenn K Matsushima" "A neomycin resistance cassette replaced sequences including the last exon, which encodes the carboxy terminal end of the kinase domain and the cytoplasmic tail. RT-PCR analysis demonstrated that a mutant transcript was expressed from this allele that lac ked sequences encoding the cytoplasmic kinase domain." J:53423 J:81618 MET MGI:96969 Met 7 Met "targeted mutation 1, Carmen Birchmeier" "A neomycin selection cassette replaced an exon encoding the invariant lysine 1108. RNAse protection analysis revealed that normal levels of a transcript lacking nucleotides 3254-3334 is produced from this allele, but no protein activity is detectable in an in vitro auto-kinase assay." J:28570 J:53292 J:60988 J:80685 MET MGI:96969 Met 7 Met "targeted mutation 1, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutations Y1349F and Y1356Fis produced from this allele. J:36244 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation MET MGI:96969 Met 7 Met "targeted mutation 1, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutations Y1349F and Y1356Fis produced from this allele. J:36244 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth MET MGI:96969 Met 7 Met "targeted mutation 1, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutations Y1349F and Y1356Fis produced from this allele. J:36244 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" MET MGI:96969 Met 7 Met "targeted mutation 1, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutations Y1349F and Y1356Fis produced from this allele. J:36244 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" MET MGI:96969 Met 7 Met "targeted mutation 1, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutations Y1349F and Y1356Fis produced from this allele. J:36244 MGI:2173558 musculature: muscle dysmorphology "abnormal development of muscle tissue resulting in morphological abnormality\nExample: hernia, muscle dysplasia" MET MGI:96969 Met 7 Met "targeted mutation 2, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutation Y1358N is produced from this allele. J:36244 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth MET MGI:96969 Met 7 Met "targeted mutation 2, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutation Y1358N is produced from this allele. J:36244 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" MET MGI:96969 Met 7 Met "targeted mutation 2, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutation Y1358N is produced from this allele. J:36244 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" MET MGI:96969 Met 7 Met "targeted mutation 2, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutation Y1358N is produced from this allele. J:36244 MGI:2173558 musculature: muscle dysmorphology "abnormal development of muscle tissue resulting in morphological abnormality\nExample: hernia, muscle dysplasia" MET MGI:96969 Met 7 Met "targeted mutation 2, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutation Y1358N is produced from this allele. J:36244 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" MET MGI:96969 Met 7 Met "targeted mutation 2, Carola Ponzetto" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellular domain fused to the human transmembrane and cytoplasmic domain carrying the mutation Y1358N is produced from this allele. J:36244 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" MET MGI:96969 Met 7 Met "targeted mutation 3, Carola Ponzetta" A wild type human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a neomycin resistance cassette. A fusion protein consisting of the murine extracellul ar domain fused to the human transmembrane and cytoplasmic domain is produced from this allele. This allele is a control for Met and Met. J:36244 MET MGI:96969 Met 7 Met "targeted mutation 4, Carola Ponzetta" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a floxed neomycin resistance cassette. A fusion protein consisting of the murine extracell ular domain fused to the human transmembrane and cytoplasmic domain carrying the mutation Y1358N is produced from this allele. J:81793 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth MET MGI:96969 Met 7 Met "targeted mutation 4, Carola Ponzetta" A mutant human cDNA coding for the transmembrane and cytoplasmic domain of the receptor was inserted in-frame into mouse genomic sequences. The cDNA was followed by a floxed neomycin resistance cassette. A fusion protein consisting of the murine extracell ular domain fused to the human transmembrane and cytoplasmic domain carrying the mutation Y1358N is produced from this allele. J:81793 MGI:2173549 extremities: limb dysmorphology "abnormal development of limbs resulting in morphological abnormality\nExample: short limbs, absence of limbs" MET MGI:96969 Met 7 Met "targeted mutation 4.1, Carola Ponzetta" This allele is derived from Met by crossing mutant animals to cre deleter strain TgN(CMV-cre)1Cgn. This results in deletion of the floxed neo cassette leaving behind the mutant human cDNA sequence carrying a Y1358N knock-in mutation. J:81793 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" MET MGI:96969 Met 7 Met "targeted mutation 4.1, Carola Ponzetta" This allele is derived from Met by crossing mutant animals to cre deleter strain TgN(CMV-cre)1Cgn. This results in deletion of the floxed neo cassette leaving behind the mutant human cDNA sequence carrying a Y1358N knock-in mutation. J:81793 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" MISR2 MGI:105062 Amhr2 2 Amhr2 "targeted mutation 1, Richard R Behringer" A 4.4 kb genomic fragment containing the first six exons was deleted and replaced with a neomycin selection cassette. RT-PCR analysis demonstrated that no transcript was detectable in the urogenital ridge of homozygous E13.5 embryos. J:36027 MSK2 MGI:1930076 Rps6ka4 3 Rps6ka4 "targeted mutation 1.1, Gunther Schutz" "Two exons encoding the amino terminal ATP-binding domain (residues 44 through 154) were flanked by loxP sites. Prior to blastocyst injection, an FRT flanked neomycin selection cassette was excised by the expression of FLP recombinase within targeted ES ce lls." J:75113 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" MSK2 MGI:1930076 Rps6ka4 3 Rps6ka4 "targeted mutation 1.2, Gunther Schutz" "A fragment containing 2 exons encoding the ATP-binding domain was excised, leaving a single loxP site. Truncated transcript was detected by RT-PCR analysis of total renal RNA isolated from heterozygous mice. This allele was generated by the breeding of mi ce carrying Rps6ka4 with transgenic mice expressing cre recombinase via a ubiquitous promoter." J:75113 MUSK MGI:103581 Musk 3 Musk "targeted mutation 1, George D Yancopoulos" Replacement of most of the exon encoding subdomains 5-11 of the tyrosine kinase domain and flanking intron sequence with a neomycin cassette. J:33132 J:33184 J:55315 J:69623 J:70506 J:80082 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth MUSK MGI:103581 Musk 3 Musk "targeted mutation 1, George D Yancopoulos" Replacement of most of the exon encoding subdomains 5-11 of the tyrosine kinase domain and flanking intron sequence with a neomycin cassette. J:33132 J:33184 J:55315 J:69623 J:70506 J:80082 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" MUSK MGI:103581 Musk 3 Musk "targeted mutation 1, George D Yancopoulos" Replacement of most of the exon encoding subdomains 5-11 of the tyrosine kinase domain and flanking intron sequence with a neomycin cassette. J:33132 J:33184 J:55315 J:69623 J:70506 J:80082 MGI:2173593 respiratory system: respiratory distress or failure/functional anomalies "inability or reduced ability to intake and exchange oxygen and carbon dioxide with the environment\nExample: gasping, irregular breathing, apnea" MUSK MGI:103581 Musk 3 Musk "targeted mutation 1, George D Yancopoulos" Replacement of most of the exon encoding subdomains 5-11 of the tyrosine kinase domain and flanking intron sequence with a neomycin cassette. J:33132 J:33184 J:55315 J:69623 J:70506 J:80082 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" MUSK MGI:103581 Musk 3 Musk "targeted mutation 1, Veit Witzemann" LoxP sites were inserted into the introns flanking the region encoding the kinase domain. The details are referenced as unpublished. J:81566 NEK1 MGI:97303 Nek1 3 Nek1 "kidney, anemia and testis" nucleotides 791-2105 deleted J:37799 J:59363 NEK1 MGI:97303 Nek1 3 Nek1 "kidney, anemia and testis 2 Jackson" G insertion at position 966 causes frameshift and premature stop J:37799 J:59363 NEK1 MGI:97303 Nek1 3 Nek1 "kidney, anemia and testis 3 Jackson" J:23000 NEK8 MGI:1890646 Nek8 1 Nek8 juvenile cystic kidney "The mutation in jck mice has been identified as a nucleotide substitution (G1348T), resulting in a nonconservative amino acid substitution of valine for glycine at amino acid 488 in the C-terminal domain of the protein." J:11885 J:23893 J:43909 J:79896 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" NEK8 MGI:1890646 Nek8 1 Nek8 juvenile cystic kidney "The mutation in jck mice has been identified as a nucleotide substitution (G1348T), resulting in a nonconservative amino acid substitution of valine for glycine at amino acid 488 in the C-terminal domain of the protein." J:11885 J:23893 J:43909 J:79896 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" NEK8 MGI:1890646 Nek8 1 Nek8 juvenile cystic kidney "The mutation in jck mice has been identified as a nucleotide substitution (G1348T), resulting in a nonconservative amino acid substitution of valine for glycine at amino acid 488 in the C-terminal domain of the protein." J:11885 J:23893 J:43909 J:79896 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" NEK8 MGI:1890646 Nek8 1 Nek8 juvenile cystic kidney "The mutation in jck mice has been identified as a nucleotide substitution (G1348T), resulting in a nonconservative amino acid substitution of valine for glycine at amino acid 488 in the C-terminal domain of the protein." J:11885 J:23893 J:43909 J:79896 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" NIK MGI:1858204 Map3k14 3 Map3k14 alymphoplasia A G-to-A transition point mutation resulted in a replacement of a conserved glycine for an arginine at position 855 of the encoded protein. J:16865 J:54529 J:70173 J:78101 J:82631 NIK MGI:1858204 Map3k14 3 Map3k14 "targeted mutation 1, Robert D Schreiber" "The gene was disrupted by replacing the first 120 bp of exon 1 with a neomycin resistance cassette. Western blot analysis of lung, spleen, and kidney samples from homozygous mutant animals verified the null allele." J:68125 NLK MGI:1201387 Nlk 3 Nlk "gene trap mutation 10, Lexicon Genetics Inc" J:46940 NLK MGI:1201387 Nlk 3 Nlk "targeted mutation 1, Thomas Boehm" Insertion of an IRES-beta-galactosidase-neomycin cassette into exon 5 disrupted the gene and placed expression of lacZ under control of the endogenous promoter. J:73353 p38a MGI:1346865 Mapk14 4 Mapk14 "targeted mutation 1, Michael Karin" A neomycin resistance cassette was inserted into the genomic sequence at a position corresponding to codon 97. Western blot and immunoprecipitation experiments confirmed that no detectable protein was expressed from this allele. J:63425 J:82448 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation p38a MGI:1346865 Mapk14 4 Mapk14 "targeted mutation 1, Michael Karin" A neomycin resistance cassette was inserted into the genomic sequence at a position corresponding to codon 97. Western blot and immunoprecipitation experiments confirmed that no detectable protein was expressed from this allele. J:63425 J:82448 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" p38a MGI:1346865 Mapk14 4 Mapk14 "targeted mutation 1, Michael Karin" A neomycin resistance cassette was inserted into the genomic sequence at a position corresponding to codon 97. Western blot and immunoprecipitation experiments confirmed that no detectable protein was expressed from this allele. J:63425 J:82448 MGI:2173583 hematology: hematopoietic anomalies "abnormal development of the various types of blood cells resulting in morphological abnormality\nExample: abnormal platelets, absence of granulocytes" p38a MGI:1346865 Mapk14 4 Mapk14 "targeted mutation 1, Michael Karin" A neomycin resistance cassette was inserted into the genomic sequence at a position corresponding to codon 97. Western blot and immunoprecipitation experiments confirmed that no detectable protein was expressed from this allele. J:63425 J:82448 MGI:2173584 hematology: abnormal red blood cell count deficiency in the maintenance of erythrocytes or oxygen-transporting material in the blood Example: anemia p38a MGI:1346865 Mapk14 4 Mapk14 "targeted mutation 1, Michael Karin" A neomycin resistance cassette was inserted into the genomic sequence at a position corresponding to codon 97. Western blot and immunoprecipitation experiments confirmed that no detectable protein was expressed from this allele. J:63425 J:82448 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" p38a MGI:1346865 Mapk14 4 Mapk14 "targeted mutation 1, Michael Karin" A neomycin resistance cassette was inserted into the genomic sequence at a position corresponding to codon 97. Western blot and immunoprecipitation experiments confirmed that no detectable protein was expressed from this allele. J:63425 J:82448 MGI:2173598 liver/hepatic system: dysmorphology abnormal development of liver resulting in morphological abnormality Example: hypoplastic liver p38a MGI:1346865 Mapk14 4 Mapk14 "targeted mutation 1, Angel R Nebreda" "An internal 2 kb genomic fragment was replaced with a lacZ gene and a PGK-neomycin cassette. The deleted region contains two exons encoding amino acids 40-103, which includes most of the amino-terminal lobe of the catalytic domain including the glycine-r ich ATP binding loop. Western blot analysis of lysates prepared from E10.5 embryos confirmed that no detectable protein was expressed from this allele." J:63877 p38a MGI:1346865 Mapk14 4 Mapk14 "targeted mutation 1, Michael M Shen" A neomycin resistance gene replaced part of exon 3 and part of intron 3. J:73417 PDGFRa MGI:97530 Pdgfra 10 Pdgfra patch J:10920 J:1104 J:1107 J:28443 J:34586 J:40047 J:44830 J:64680 J:99 PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 1, Philippe Soriano" Replacement of sequences encoding the first immunoglobulin domain with a loxP-flanked neomycin cassette. J:41814 J:63212 J:82564 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 1, Philippe Soriano" Replacement of sequences encoding the first immunoglobulin domain with a loxP-flanked neomycin cassette. J:41814 J:63212 J:82564 MGI:2173530 embryogenesis: embryonic tissue dysmorphology abnormal development of embryonic tissue resulting in morphological abnormality\nExample: abnormal organ formation PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 1, Philippe Soriano" Replacement of sequences encoding the first immunoglobulin domain with a loxP-flanked neomycin cassette. J:41814 J:63212 J:82564 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 1, Philippe Soriano" Replacement of sequences encoding the first immunoglobulin domain with a loxP-flanked neomycin cassette. J:41814 J:63212 J:82564 MGI:2173628 other aberrant phenotype anomaly or dysmorphology not attributable to any other category Example: PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 2, Philippe Soriano" "Replacement of intronic sequences encoding the signal peptide, and the first and second immunoglobulin domains with a loxP-flanked neomycin cassette." J:41814 J:54912 J:63212 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 2, Philippe Soriano" "Replacement of intronic sequences encoding the signal peptide, and the first and second immunoglobulin domains with a loxP-flanked neomycin cassette." J:41814 J:54912 J:63212 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 2, Philippe Soriano" "Replacement of intronic sequences encoding the signal peptide, and the first and second immunoglobulin domains with a loxP-flanked neomycin cassette." J:41814 J:54912 J:63212 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 2, Philippe Soriano" "Replacement of intronic sequences encoding the signal peptide, and the first and second immunoglobulin domains with a loxP-flanked neomycin cassette." J:41814 J:54912 J:63212 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 2, Philippe Soriano" "Replacement of intronic sequences encoding the signal peptide, and the first and second immunoglobulin domains with a loxP-flanked neomycin cassette." J:41814 J:54912 J:63212 MGI:2173562 skeletal: axial defects "abnormal development of vertebral, spinal or sternal bones resulting in morphological abnormality Example: vertebral and rib defects, scoliosis" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 2, Philippe Soriano" "Replacement of intronic sequences encoding the signal peptide, and the first and second immunoglobulin domains with a loxP-flanked neomycin cassette." J:41814 J:54912 J:63212 MGI:2173585 hematology: abnormal blood coagulation "altered ability or inability of the blood to clot\nExample: hemophilia, thrombosis" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 2, Philippe Soriano" "Replacement of intronic sequences encoding the signal peptide, and the first and second immunoglobulin domains with a loxP-flanked neomycin cassette." J:41814 J:54912 J:63212 MGI:2173611 central nervous system: neural tube defects abnormal development of the embryonic neural tube resulting in morphological abnormality Example: spina bifida PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 3, Philippe Soriano" A cDNA encoding a chimeric receptor consisting of sequences encoding the extracellular portion of the PDGFalphaR fused to the intracellular portion of the PDGFbetaR was targeted into the Pdgfra locus. Western blot analysis indicated that expression of t he targeted Pdgfr locus was disrupted and the chimeric receptor was expressed. J:67735 PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 4, Philippe Soriano" A cDNA encoding PDGFalphaR was targeted into the Pdgfra locus. This allele serves as a control for Pdgfra. Western blot analysis indicated that expression of the targeted Pdgfr locus was disrupted and the introduced receptor was expressed. J:67735 PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 8, Philippe Soriano" A loxP site was introduced upstream of exon 1 and a PGK-neo-loxP cassette was introduced downstream of exon 4 via homologous recombination. J:81153 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 8, Philippe Soriano" A loxP site was introduced upstream of exon 1 and a PGK-neo-loxP cassette was introduced downstream of exon 4 via homologous recombination. J:81153 MGI:2173529 embryogenesis: developmental patterning abnormalities "abnormal systematic arrangement of the developing body\nExample: abnormal triploblastic development, somite development, gastrulation, or embryo turning" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 8, Philippe Soriano" A loxP site was introduced upstream of exon 1 and a PGK-neo-loxP cassette was introduced downstream of exon 4 via homologous recombination. J:81153 MGI:2173564 skeletal: craniofacial defects "abnormal development of cranial or facial bones resulting in morphological abnormality\nExample: cleft palate, enlarged skull" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 8, Philippe Soriano" A loxP site was introduced upstream of exon 1 and a PGK-neo-loxP cassette was introduced downstream of exon 4 via homologous recombination. J:81153 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 8, Philippe Soriano" A loxP site was introduced upstream of exon 1 and a PGK-neo-loxP cassette was introduced downstream of exon 4 via homologous recombination. J:81153 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 8, Philippe Soriano" A loxP site was introduced upstream of exon 1 and a PGK-neo-loxP cassette was introduced downstream of exon 4 via homologous recombination. J:81153 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 5, Philippe Soriano" A cDNA encoding a mutated receptor consisting of point mutations encoding the tyrosine 731/742 sites was targeted into the Pdgfra locus. Western blot analysis indicated that expression of the targeted Pdgfra locus was disrupted and the mutant receptor w as expressed. J:73817 PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 6, Philippe Soriano" A cDNA encoding a mutated receptor consisting of point mutations encoding the tyrosine 572/574 sites was targeted into the Pdgfra locus. Western blot analysis indicated that expression of the targeted Pdgfra locus was disrupted and the mutant receptor w as expressed. J:73817 PDGFRa MGI:97530 Pdgfra 10 Pdgfra "targeted mutation 7, Philippe Soriano" "A cDNA encoding a mutated receptor consisting of point mutations encoding the tyrosines at codons 572/574, 720, 731/742, 988 and 1018 was targeted into the Pdgfra locus." J:73817 PDGFRb MGI:97531 Pdgfrb 7 Pdgfrb "targeted mutation 1, Phillipe Soriano" "A neomycin resistance cassette replaced 1.8 kb of genomic sequence, which encodes part of the signal peptide and the second immunoglobulin domain. Northern blot analysis detected a shorter transcript in homozygous mutant mice that was presumed to be due to exon skipping. Western blot analysis of total protein failed to detect any encoded protein in homozygous mice." J:20016 J:20328 J:78912 PDGFRb MGI:97531 Pdgfrb 7 Pdgfrb "targeted mutation 2, Phillipe Soriano" A promoterless beta-galactosidase/neomycin gene fusion (beta-geo) was inserted in frame into the exon coding for the signal peptide. Southern blot analysis demonstrated that three tandem copies of the beta-geo gene were present in a concatamer. Northern blot analysis failed to detect a PDGFbetaR transcript in homozygous mutants. Western blot analysis of total protein failed to detect any immunoreactive PDGFbetaR in homozygous mutants. J:20016 PDGFRb MGI:97531 Pdgfrb 7 Pdgfrb "targeted mutation 3, Phillipe Soriano" A to T transversions in the sequences corresponding to exons 739 and 750 were introduced that altered the corresponding amino acids from tyrosine to phenylalanine. This mutation is predicted to disrupt the PI3-K binding sites in the protein. A loxP flan ked neomycin cassette was inserted into an adjacent intron. J:69710 PDGFRb MGI:97531 Pdgfrb 7 Pdgfrb "targeted mutation 4, Phillipe Soriano" "A to T transversions in the sequences corresponding to exons 739 and 750 were introduced that altered the corresponding amino acids from tyrosine to phenylalanine. In addition, a mutation was introduced that altered the sequences of the codon correspondin g to 1020 from a tyrosine to an isoleucine (DNA alteration not specified). These mutations are predicted to disrupt the PI3-K and PLC-gamma binding sites in the protein. A loxP flanked neomycin cassette was inserted into an adjacent intron. Removal of t his neomycin cassette had no effect on the phenotype, and analysis of mice with or without the neomycin casstte was not distinguished in the paper." J:66516 PDGFRb MGI:97531 Pdgfrb 7 Pdgfrb "targeted mutation 5, Phillipe Soriano" A cDNA encoding a chimeric receptor consisting of sequences encoding the extracellular portion of the PDGFbetaR fused to the intracellular portion of the PDGFalphaR was targeted into the Pdgfrb locus. The cDNA was inserted in frame into a Sma1 site in th e second coding exon. Western blot analysis indicated that expression of the targeted Pdgfr locus was disrupted and the chimeric receptor was expressed. J:67735 PDGFRb MGI:97531 Pdgfrb 7 Pdgfrb "targeted mutation 6, Phillipe Soriano" A cDNA encoding PDGFbetaR was targeted into the Pdgfrb locus. This allele serves as a control for Pdgfrb. The cDNA was inserted in frame into a Sma1 site in the second coding exon. Western blot analysis indicated that expression of the targeted Pdgfr locus was disrupted and the introduced receptor was expressed. J:67735 PEK MGI:1341830 Eif2ak3 3 Eif2ak3 "targeted mutation 1, David Ron" "A neomycin selection cassette replaced 1.6 kb of DNA containing the transmembrane domain (residues 1434-1811). Northern blot analysis demonstrated that at least 10-fold less transcript was produced from this allele that the wild type. However, western b lot analysis on cells derived from homozygous mice confimed that no detectable protein was expressed from this allele." J:62257 J:70005 PEK MGI:1341830 Eif2ak3 3 Eif2ak3 "targeted mutation 1, Douglas R Cavener" "Two loxP sites were introduced to intronic regions flanking 3 exons encoding part of the lumenal domain, the transmembrane domain, and part of the catalytic domain. A third loxP site was introduced with a PGK-neo cassette directly downstream of the second loxP site in the same intron. The 3 exons and PGK-neo cassette were excised by mating chimeric animals to a cre-expressing line. RT-PCR analysis of homozygous mutant animals using primers flanking the deleted region confirmed that gene transcripts did no t contain the deleted exons. Western blot analysis using antibodies directed against the kinase domain did not detect protein product in pancreatic lysates from homozygous mutants." J:76661 PIM1 MGI:97584 Pim1 2 Pim1 "targeted mutation 1, Peter W Laird" "The insertion of a neomycin selection cassette deleted the promoter region, both transcriptional and translational start sites, and a portion of the coding sequence containing an essential lysine residue in the ATP-binding site of the protein kinase domai n. An in vitro autophosphorylation assay showed an absence of phospho-kinase activity in splenocytes obtained from homozygous mutant mice." J:14715 J:15259 J:15268 PKACa MGI:97592 Prkaca 2 Prkaca "targeted mutation 1, G Stanley McKnight" Exons 6-8 were replaced with a neomycin resistance cassette via homologous recombination. The knockout allele was confirmed via the absence of protein product in brain of homozygous mutant animals as determined by Western blot analysis. J:76765 J:77110 J:78451 PKACb MGI:97594 Prkacb 3 Prkacb "targeted mutation 1, G Stanley McKnight" "A 200 bp region of the gene spanning amino acid 5 of exon 1 to part of intron 1 was replaced with a neomycin resistance cassette via homologous recombination. The gene targeting event specifically disrupts the beta 1 isoform of the gene product. The beta 2 and beta 3 isoforms, which do not utilize exon 1, remain intact. Western blot analysis verified the absence of beta 1 isoform in homozygous mutant animals." J:30405 J:31731 J:76765 J:78451 PKACb MGI:97594 Prkacb 3 Prkacb "targeted mutation 2, G Stanley McKnight" Exon 2 was replaced with a neomycin selection cassette inserted by homologous recombination. Western blot analysis indicated an absence of all three isoforms in homozygous mutant mice. J:78451 MGI:2173567 neurological/behavioral: conditioning defect inability to change the frequency or form of behavior as a result of the influence of the environment\nExample: reduced avoidance behavior PKACb MGI:97594 Prkacb 3 Prkacb "targeted mutation 2, G Stanley McKnight" Exon 2 was replaced with a neomycin selection cassette inserted by homologous recombination. Western blot analysis indicated an absence of all three isoforms in homozygous mutant mice. J:78451 MGI:2173577 neurological/behavioral: no defect detected no anomaly observed in neurological or behavioral tests\nExample: normal behavior PKACb MGI:97594 Prkacb 3 Prkacb "targeted mutation 2, G Stanley McKnight" Exon 2 was replaced with a neomycin selection cassette inserted by homologous recombination. Western blot analysis indicated an absence of all three isoforms in homozygous mutant mice. J:78451 MGI:2173615 central nervous system: other functional anomalies "altered brain or spinal cord function not due to LTP or anatomical defect Example: reduced synaptic currents, increased dopaminergic levels" PKCb MGI:97596 Prkcb 2 Prkcb "targeted mutation 1, Alexander Tarakhovsky" "A construct, containing lacZ and neo, was inserted into exon 2. The absence of both isoforms in homozygous mutant mice was determined via immunoblot analysis of splenocyte and thymocyte lysates." J:34818 J:77629 PKCd MGI:97598 Prkcd 3 Prkcd "targeted mutation 1, Kei-ichi Nakayama" Exons 1 and 2 were replaced with a neomycin resistance gene via homologous recombination. Protein product was absent in brain of homozygous mutant animals as determined by Western blot analysis. J:76135 PKCd MGI:97598 Prkcd 3 Prkcd "targeted mutation 1, Qingbo Xu" "The translation initiation codon was disrupted by insertion of a lacZ-neo cassette into the first coding exon of the gene via homologous recombination. Protein product was absent in homozygous mutant animals as determined by Western blot analysis of heart , lung, and liver tissues." J:76134 J:76748 J:78680 PKCe MGI:97599 Prkce 2 Prkce "targeted mutation 1, Robert Messing" 1.2 kb of this gene including the translation initiation site was deleted via homologous recombination with a neo-derived targeting vector. Western blot indicated homozygous mutant animals did not express protein in dorsal root ganglion. J:57887 J:58126 J:79806 J:80186 J:83035 MGI:2173570 neurological/behavioral: fear/anxiety "altered response in tests for fear or anxiety related behaviors\nExample: reduced anxiety, increased exploratory activity, freezing" PKCe MGI:97599 Prkce 2 Prkce "targeted mutation 1, Robert Messing" 1.2 kb of this gene including the translation initiation site was deleted via homologous recombination with a neo-derived targeting vector. Western blot indicated homozygous mutant animals did not express protein in dorsal root ganglion. J:57887 J:58126 J:79806 J:80186 J:83035 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" PKCe MGI:97599 Prkce 2 Prkce "targeted mutation 1, Robert Messing" 1.2 kb of this gene including the translation initiation site was deleted via homologous recombination with a neo-derived targeting vector. Western blot indicated homozygous mutant animals did not express protein in dorsal root ganglion. J:57887 J:58126 J:79806 J:80186 J:83035 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" PKCe MGI:97599 Prkce 2 Prkce "targeted mutation 1, Robert Messing" 1.2 kb of this gene including the translation initiation site was deleted via homologous recombination with a neo-derived targeting vector. Western blot indicated homozygous mutant animals did not express protein in dorsal root ganglion. J:57887 J:58126 J:79806 J:80186 J:83035 MGI:2173574 neurological/behavioral: feeding/drinking anomalies "inability to eat or drink, or unusual choice or avoidance of foods or drink Example: adipsia, aphagia" PKCe MGI:97599 Prkce 2 Prkce "targeted mutation 1, Robert Messing" 1.2 kb of this gene including the translation initiation site was deleted via homologous recombination with a neo-derived targeting vector. Western blot indicated homozygous mutant animals did not express protein in dorsal root ganglion. J:57887 J:58126 J:79806 J:80186 J:83035 MGI:2173576 neurological/behavioral: other anomalies "abnormal behaviors not attributable to other categories Example: abnormal mating preference, abnormal grooming" PKCe MGI:97599 Prkce 2 Prkce "targeted mutation 1, Robert Messing" 1.2 kb of this gene including the translation initiation site was deleted via homologous recombination with a neo-derived targeting vector. Western blot indicated homozygous mutant animals did not express protein in dorsal root ganglion. J:57887 J:58126 J:79806 J:80186 J:83035 MGI:2173624 glands: functional anomalies "altered glandular secretion not due to anatomical defect Example: elevated serum levels of ACTH, hypersecretion of cortisol" PKCg MGI:97597 Prkcc 2 Prkcc "targeted mutation 1, Susumu Tonegawa" A neomycin resistance cassette replaced 2.5kb of sequence containing the exon that encodes the nucleotide binding domain. Northern blot analysis of total brain RNA demonstrated that homozygous mutant mice lack normal transcripts. Western blot analysis o f total brain protein did not detect the protein in homozygous mutant mice. J:16391 J:16392 J:25061 J:43458 J:54243 J:64043 J:70174 J:79995 PKCz MGI:97602 Prkcz 2 Prkcz "targeted mutation 1, Jorges Moscat" The gene was disrupted by replacement of a coding exon with a lacZ-neo cassette via homologous recombination. Absence of gene expression was demonstrated by Western blot analysis of various tissues from homozygous mutant animals. J:72720 PKG1 MGI:108174 Prkg1 2 Prkg1 "targeted mutation 1, Franz Hofmann" "The exon encoding a portion of the ATP-binding domain, which is common to both known isoforms, was replaced by a neomycin selection cassette. Norhtern blot analysis showed an absence of transcript in uterus tissue from homozygous mutant mice. Western blot analysis of platelets, aorta, and duodenum from homozygous mutant mice showed that while Prkg1 protein was absent, levels of Prkg2 protein were unaffected. A lack of cGMP-stimulated kinase activity in lung extracts obtained from homozygous mutant mice fu rther demonstrated the absence of a functional protein." J:48058 J:60928 PKG2 MGI:108173 Prkg2 2 Prkg2 "targeted mutation 1, Alexander Pfeifer" "A 308 bp fragment of the second coding exon was replaced with a neomycin selection cassette inserted by homologous recombination. The disrupted exon encoded a portion of the cGMP binding pocket. Northern blot, RT-PCR, and Western blot analyses indicated a n absence of normal transcript and protein in homozygous mutant mice. Functional ablation was confirmed by a lack of cGMP-stimulated phosphotransferase activity in jejunal homogenates." J:37306 J:81461 PKR MGI:1353449 Prkr 3 Prkr "targeted mutation 1, Charles Weissmann" "A 2.0kb region, containing portions of exons 2 and 3, was deleted by the insertion of a neomycin selection cassette adjoined to the 5' end of an upstream mouse sequence (UMS) element. Northern blot analyses, using various probes, showed that transcriptio n was not terminated by the UMS element. RT-PCR and sequence analysis showed that exons 2 and 3 and the intervening neo cassette had been spliced out in the majority of transcripts. The exon-skipped transcript was shown to be capable of producing protein in a cell-free system, however, protein was undetected via Western blot analysis of lysates obtained from homozygous mutant mice. Additionally, assays of MEF cell extracts showed an absence of autophosphorylation activity in homozygous mutant mice." J:30617 J:38654 J:55974 J:66112 J:81243 PKR MGI:1353449 Prkr 3 Prkr "targeted mutation 1, John C Bell" "Exon 12, encoding subdomains 5 and 6 of the catalytic domain, was deleted by the insertion of a neomycin selection cassette. Northern blot analysis of total RNA isolated from ES cells identified the production of a novel transcript containing the neo tran sgene. RT-PCR analysis confirmed that transcription was derived from the endogenous promoter with read-through into the transgene. Western blot analysis failed to detect encoded protein in cell lysates from homozygous mutant mice. The functional ablation of the protein was determined via an immune complex kinase autophosphorylation assays." J:53258 J:63671 PLK4 MGI:101783 Stk18 2 Stk18 "targeted mutation 1, James W Dennis" Exons 1 and 2 were replaced with a neomycin resistance cassette via homologous recombination. The targeted mutation deletes the translation initiation site and part of the kinase domain. J:68142 RAF1 MGI:97847 Raf1 3 Raf1 "targeted mutation 1, Manuela Baccarini" "Exon 3 was flanked with loxP sites by insertion of a floxed TK-neo cassette and a single loxP site into the upstream and downstream introns, respectively. Exon 3 was removed by transient expression of cre recombinase in correctly targeted ES cells. Absenc e of gene expression was confirmed by Western blot analysis of mouse embryonic fibroblasts (MEFs) derived from homozygous mutant embryos. Immune complex kinase assays showed a lack of enzyme activity in MEFs from homozygous mutants." J:69056 RAF1 MGI:97847 Raf1 3 Raf1 "targeted mutation 1, Andreas Zimmer" "A hypomorphic allele was generated by disrupting the first coding exon (exon 2) with a neo cassette. While Western blot analysis showed an absence of normal protein (74 kDA), low levels of a 62 kDa protein were identified. Sequence analysis of mRNA showed excision of the targeted exon and identified potential start codons in exon 3. Biochemical assays showed no kinase activity in nonstimulated mutant fibroblasts and a 90% reduction in activity in stimulated fibroblasts relative to wild type samples." J:50696 J:61360 RET MGI:97902 Ret 7 Ret "targeted mutation 1, Franklin Costantini" "A neomycin resistance cassette replaced 0.8 kb of sequence, including the codon for an invariant lysine required for kinase activity. Northern blot analysis did not detect normal transcripts in brains of homozygous mice, but did detect several transcript s with sizes consistent with predicted products of the mutant allele." J:23852 J:30389 J:30830 J:52988 J:54981 J:71588 J:78712 J:82111 J:82456 MGI:2173526 survival: perinatal lethality death anytime between E18.5 and postnatal day 1 (includes neonatal lethality)\nExample: die at birth RET MGI:97902 Ret 7 Ret "targeted mutation 1, Franklin Costantini" "A neomycin resistance cassette replaced 0.8 kb of sequence, including the codon for an invariant lysine required for kinase activity. Northern blot analysis did not detect normal transcripts in brains of homozygous mice, but did detect several transcript s with sizes consistent with predicted products of the mutant allele." J:23852 J:30389 J:30830 J:52988 J:54981 J:71588 J:78712 J:82111 J:82456 MGI:2173602 digestive system: functional anomalies "altered ability of the body to convert ingested food to nutrients and energy; not due to anatomical defect Example: diarrhea, abnormal nutrient absorption" RET MGI:97902 Ret 7 Ret "targeted mutation 1, Franklin Costantini" "A neomycin resistance cassette replaced 0.8 kb of sequence, including the codon for an invariant lysine required for kinase activity. Northern blot analysis did not detect normal transcripts in brains of homozygous mice, but did detect several transcript s with sizes consistent with predicted products of the mutant allele." J:23852 J:30389 J:30830 J:52988 J:54981 J:71588 J:78712 J:82111 J:82456 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" RET MGI:97902 Ret 7 Ret "targeted mutation 1, Franklin Costantini" "A neomycin resistance cassette replaced 0.8 kb of sequence, including the codon for an invariant lysine required for kinase activity. Northern blot analysis did not detect normal transcripts in brains of homozygous mice, but did detect several transcript s with sizes consistent with predicted products of the mutant allele." J:23852 J:30389 J:30830 J:52988 J:54981 J:71588 J:78712 J:82111 J:82456 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" RET MGI:97902 Ret 7 Ret "targeted mutation 1, Franklin Costantini" "A neomycin resistance cassette replaced 0.8 kb of sequence, including the codon for an invariant lysine required for kinase activity. Northern blot analysis did not detect normal transcripts in brains of homozygous mice, but did detect several transcript s with sizes consistent with predicted products of the mutant allele." J:23852 J:30389 J:30830 J:52988 J:54981 J:71588 J:78712 J:82111 J:82456 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" RET MGI:97902 Ret 7 Ret "targeted mutation 1, Franklin Costantini" "A neomycin resistance cassette replaced 0.8 kb of sequence, including the codon for an invariant lysine required for kinase activity. Northern blot analysis did not detect normal transcripts in brains of homozygous mice, but did detect several transcript s with sizes consistent with predicted products of the mutant allele." J:23852 J:30389 J:30830 J:52988 J:54981 J:71588 J:78712 J:82111 J:82456 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" RET MGI:97902 Ret 7 Ret "targeted mutation 1, Franklin Costantini" "A neomycin resistance cassette replaced 0.8 kb of sequence, including the codon for an invariant lysine required for kinase activity. Northern blot analysis did not detect normal transcripts in brains of homozygous mice, but did detect several transcript s with sizes consistent with predicted products of the mutant allele." J:23852 J:30389 J:30830 J:52988 J:54981 J:71588 J:78712 J:82111 J:82456 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" RET MGI:97902 Ret 7 Ret "targeted mutation 2, Franklin Costantini" "A T to C transition in codon 919, the equivalent codon to human 918, resulted in a protein which encoded threonine instead of methionine at this position. Silent mutations in codons 920 and 921 abolished a MunI endonuclease site. A loxP flanked neomycin cassette was inserted into an adjacent intron." J:60659 RET MGI:97902 Ret 7 Ret "targeted mutation 2.1, Franklin Costantini" "A T to C transition in codon 919, the equivalent codon to human 918, resulted in a protein which encoded threonine instead of methionine at this position. Silent mutations in codons 920 and 921 abolished a MunI endonuclease site. An adjacent loxP flanke d neomycin cassette was removed by crossing mice carrying Ret to mice expressing Cre under the control of a ¤-actin promoter." J:60659 RET MGI:97902 Ret 7 Ret "targeted mutation 1, Vassilis Pachnis" "A cDNA fragment encoding the intracelluar portion of the human RET9 isoform was fused in-frame with mouse exon 11 immediately downstream of the transmembrane domain-coding region. A floxed PGK-neo cassette followed the human cDNA sequence for positive sel ection. RT-PCR analysis and Western blot using allele-specific primers and antibodies, respectively, confirmed expression of the chimeric gene product in homozygous mutant animals. Semiquanititative RT-PCR and Western blot also determined the expression l evel of the mutant allele was similar to that of wild type." J:71588 RET MGI:97902 Ret 7 Ret "targeted mutation 2, Vassilis Pachnis" "A cDNA fragment encoding the intracelluar portion of the human RET51 isoform was fused in-frame with mouse exon 11 immediately downstream of the transmembrane domain-coding region. A floxed PGK-neo cassette followed the human cDNA sequence for positive se lection. RT-PCR analysis and Western blot using allele-specific primers and antibodies, respectively, confirmed expression of the chimeric gene product in homozygous mutant animals. Semiquanititative RT-PCR and Western blot also determined the expression level of the mutant allele was similar to that of wild type." J:71588 RET MGI:97902 Ret 7 Ret "targeted mutation 1, Jeffrey Milbrandt" The gene was disrupted by insertion of an EGFP-derived cassette and a floxed neo cassette into exon 1 via homologous recombination. The floxed neo cassette was removed by mating mutant animals to cre deleter strain TgN(ACTB-cre)2Mrt. Immunohistochemical a nalysis of homozygous mutant newborns confirmed the absence of gene expression in spinal motorneurons. J:71881 RIPK1 MGI:108212 Ripk1 2 Ripk1 "targeted mutation 1, Philip Leder" "A neomycin resistance gene was inserted into exon 2, 50 bp after the initiation codon." J:46522 RIPK2 MGI:1891456 Ripk2 3 Ripk2 "targeted mutation 1, Genhong Cheng" Exon 1 was replaced with a neomycin selection cassette inserted by homologous recombination. Western blot analysis of splenocyte extracts indicated an absence of normal protein in homozygous mutant mice. J:75401 RIPK2 MGI:1891456 Ripk2 3 Ripk2 "targeted mutation 1, Richard A Flavell" The gene was disrupted by replacement of exons 2 and 3 with a neomycin resistance gene via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by Western blot analysis of thymocyte extracts. J:75400 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" RIPK2 MGI:1891456 Ripk2 3 Ripk2 "targeted mutation 1, Richard A Flavell" The gene was disrupted by replacement of exons 2 and 3 with a neomycin resistance gene via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by Western blot analysis of thymocyte extracts. J:75400 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" RIPK2 MGI:1891456 Ripk2 3 Ripk2 "targeted mutation 1, Richard A Flavell" The gene was disrupted by replacement of exons 2 and 3 with a neomycin resistance gene via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by Western blot analysis of thymocyte extracts. J:75400 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" RIPK2 MGI:1891456 Ripk2 3 Ripk2 "targeted mutation 1, Richard A Flavell" The gene was disrupted by replacement of exons 2 and 3 with a neomycin resistance gene via homologous recombination. Absence of gene expression in homozygous mutant animals was confirmed by Western blot analysis of thymocyte extracts. J:75400 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" RNAseL MGI:1098272 Rnasel 2 Rnasel "targeted mutation 1, Robert H Silverman" "Exon 1, encoding the activator-binding region, was disrupted at codon 100 by the insertion of a neomycin selection cassette. The absence of normal protein in homozygous mutant mice was determined via Western blot analysis of MEF protein extracts and by bi nding assays on extracts from various organs. No ribonuclease activity was detected in MEF via Northern blot analysis." J:44292 J:55974 RON MGI:99614 Mst1r 6 Mst1r Friend virus susceptibility 2 Mouse strains carrying this allele are susceptible to progression of infection by Friend virus. This allele expresses both a normal and a mutant transcript initiating in intron 10 that encodes a truncated form of the receptor that lacks most of the extra cellular domain. J:5120 J:57881 J:7949 RON MGI:99614 Mst1r 6 Mst1r "targeted mutation 1, Sandra J F Degen" A genomic fragment stretching from 300 bp upstream of exon 1 to the middle of exon 15 was replaced with an HPRT expression cassette. J:54903 RON MGI:99614 Mst1r 6 Mst1r "targeted mutation 1, Alan Bernstein" An 850 bp fragment surrounding exon 1 was replaced with a lacZ gene and neomycin selection cassette. Beta-galactosidase is expressed from this allele under the control of the endogenous promoter. FACS analysis on peritoneal macrophages derived from homo zygous mice confirmed that no functional encoded protein was present on the cell surface. J:76451 RON MGI:99614 Mst1r 6 Mst1r "targeted mutation 1, Susan E Waltz" Exons 13 through 18 were left flanked by single loxP sites after a floxed hprt gene was excised by the in vitro expression of cre recombinase. Exons 13 through 18 encode the tyrosine kinase domain which is essential for catalytic activity. J:75503 RON MGI:99614 Mst1r 6 Mst1r "targeted mutation 1.1, Susan E Waltz" Exons 13 through 18 were excised by the in vitro expression of cre recombinase. The deleted region encodes the tyrosine kinase domain which is essential for catalytic activity. J:75503 ROR1 MGI:1347520 Ror1 2 Ror1 "targeted mutation 1, Yasuhiro Minami" The gene was disrupted by replacement of the coding exon with a neomycin resistance gene via homologous recombination. Homozygous mutant animals were identified by Southern blot and PCR analysis. J:72948 ROR2 MGI:1347521 Ror2 3 Ror2 "targeted mutation 1, Yasuhiro Minami" The gene was disrupted by replacement of exons encoding an Ig-like domain with a neomycin resistance gene via homologous recombination. Homozygous mutant animals were identified by Southern blot analysis. J:60125 J:72948 ROR2 MGI:1347521 Ror2 3 Ror2 "targeted mutation 1, George D Yancopoulos" The gene was disrupted by replacement of the thymidine kinase-like domain with a lacZ-neo cassette resulting in the fusion of the ecto- and transmembrane-domains with lacZ. Beta-gal staining of mutant embryo sections and in situ hybridization analysis con firmed expression of the fusion product is similar to that of the endogenous protein. J:60754 ROS MGI:97999 Ros1 3 Ros1 "targeted mutation 1, Carmen Birchmeier" A neomycin resistance cassette containing stop codons in all three reading frames was inserted into an exon that encodes the extracellular domain. This region corresponds to nucleotides 2962-3370 of the cDNA. Northern blot analyses of intestine from homoz ygous mutant mice detected two neo fusion transcripts using a cDNA probe for extracellular sequences and did not detect wild type transcript. A cDNA probe for kinase sequences detected only one of the fusion transcripts. Northern blot analysis of testis d issected from homozygous mutant embryos detected wild type transcript using a cDNA probe for kinase sequences. Western blot analysis using antibodies against a carboxy-terminal peptide did not detect protein in epididymal extracts from homozygous mutant m ice. J:33259 ROS MGI:97999 Ros1 3 Ros1 "targeted mutation 2, Carmen Birchmeier" A neomycin resistance cassette replaced two exons that encode the protein kinase domain. This region corresponds to nucleotides 6267-6467 of the cDNA. Western blot analysis using antibodies against a carboxy-terminal peptide did not detect protein in epid idymal extracts from homozygous mutant mice. J:33259 RSK2 MGI:104557 Rps6ka3 1 Rps6ka3 "targeted mutation 1, Laurie J Goodyear" Sequence encoding 31 residues of the amino terminal kinase domain were deleted by the insertion of a neomycin selection cassette inserted by homologous recombination. Western blot analysis of muscle lysates confirmed the absence of normal protein in homoz ygous mutant mice. J:67575 SGK MGI:1340062 Sgk 2 Sgk "targeted mutation 1, Dietmar Kuhl" "A region containing exons 4 through 11 was deleted by in vitro cre mediated recombination of a single loxP site inserted in intron 3 and a floxed neo cassette downstream of exon 11. The deleted region encoded the entire kinase domain. A shortened transcri pt, corresponding to a 0.9 kb deletion, was identified in homozygous mutant mice by Northern blot analysis." J:80115 SRC MGI:98397 Src 2 Src "targeted mutation 1, Philippe Soriano" Insertion of a neomycin cassette into the first coding exon. J:11847 J:20346 J:31647 J:44089 J:54973 J:59158 J:67040 J:67400 J:70507 J:72125 J:82886 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive SRC MGI:98397 Src 2 Src "targeted mutation 1, Philippe Soriano" Insertion of a neomycin cassette into the first coding exon. J:11847 J:20346 J:31647 J:44089 J:54973 J:59158 J:67040 J:67400 J:70507 J:72125 J:82886 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" SRC MGI:98397 Src 2 Src "targeted mutation 1, Philippe Soriano" Insertion of a neomycin cassette into the first coding exon. J:11847 J:20346 J:31647 J:44089 J:54973 J:59158 J:67040 J:67400 J:70507 J:72125 J:82886 MGI:2173553 teeth: tooth dysmorphology "abnormal development of teeth resulting in morphological abnormality\nExample: long teeth, no teeth, brittle teeth" SRC MGI:98397 Src 2 Src "targeted mutation 1, Philippe Soriano" Insertion of a neomycin cassette into the first coding exon. J:11847 J:20346 J:31647 J:44089 J:54973 J:59158 J:67040 J:67400 J:70507 J:72125 J:82886 MGI:2173561 skeletal: osteogenesis/developmental anomalies "abnormal development or remodeling of bone tissue resulting in morphological abnormality\nExample: osteoporosis, osteopetrosis" SYK MGI:99515 Syk 3 Syk "targeted mutation 1, Tony Pawson" A neomycin cassette replaced an exon that encodes 41 amino acids that are located in the subdomain VI of the kinase domain. Immunoprecipitation and western blot analysis on protein extracts derived from fetal liver showed that no SYK protein was present in homozygous mice. J:29797 SYK MGI:99515 Syk 3 Syk "targeted mutation 1, Victor L J Tybulewicz" The insertion of a neomycin selection cassette disrupted the exon encoding the subdomain I of the kinase domain. The absence of protein in mice homozygous for the allele was verified by Western blot analysis. J:29796 J:72387 J:74994 J:78301 TEC MGI:98662 Tec 2 Tec "targeted mutation 1, Wilfred Ellmeier" "The insertion of a neomycin selection cassette disrupted the endogenous allele by replacing exon 2 and surrounding intronic sequence. The deleted exon contained the start codon, encoded 45 residues of the Pleckstrin homology domain, and is common to the 4 known isoforms. Western blot analysis showed an absence of full length and truncated protein." J:66080 TGFBR1 MGI:98728 Tgfbr1 2 Tgfbr1 "targeted mutation 1, Stefan Karlsson" "Flanking loxP sites were introduced to exon 3 by insertion of a floxed PGK-neo cassette into the upstream intron, and by insertion of a single loxP site into the downstream intron. Transient expression of cre recombinase in correctly targeted ES cells fac ilitated the removal of exon 3 and the neo cassette. The mutation results in deletion of the transmembrane domain and the GS domain required for protein function. Northern blot analysis using a full-length cDNA probe did not detect transcripts in endothel ial cells from homozygous mutant embryos." J:68770 TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1, Makoto M Taketo" A neomycin selection cassette was inserted into exon 4 at the sequence corresponding to codon 230. RT-PCR analysis on RNA derived from targeted ES cells demonstrated that no wild type transcript was produced from this allele. J:73414 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1, Makoto M Taketo" A neomycin selection cassette was inserted into exon 4 at the sequence corresponding to codon 230. RT-PCR analysis on RNA derived from targeted ES cells demonstrated that no wild type transcript was produced from this allele. J:73414 MGI:2173531 embryogenesis: extraembryonic tissue dysmorphology "abnormal development of the extraembryonic tissue resulting in morphological abnormality\nExample: abnormal allantois, amnion, trophoblast or placental labyrinth" TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1, Makoto M Taketo" A neomycin selection cassette was inserted into exon 4 at the sequence corresponding to codon 230. RT-PCR analysis on RNA derived from targeted ES cells demonstrated that no wild type transcript was produced from this allele. J:73414 MGI:2173533 growth/weight/body size abnormality: embryonic "limited or accelerated growth or development apparent before birth Example: reduced embryo size, growth retardation, growth arrest" TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1, Makoto M Taketo" A neomycin selection cassette was inserted into exon 4 at the sequence corresponding to codon 230. RT-PCR analysis on RNA derived from targeted ES cells demonstrated that no wild type transcript was produced from this allele. J:73414 MGI:2173583 hematology: hematopoietic anomalies "abnormal development of the various types of blood cells resulting in morphological abnormality\nExample: abnormal platelets, absence of granulocytes" TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1, Makoto M Taketo" A neomycin selection cassette was inserted into exon 4 at the sequence corresponding to codon 230. RT-PCR analysis on RNA derived from targeted ES cells demonstrated that no wild type transcript was produced from this allele. J:73414 MGI:2173584 hematology: abnormal red blood cell count deficiency in the maintenance of erythrocytes or oxygen-transporting material in the blood Example: anemia TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1, Stefan Karlsson" Exon 4 was left flanked by single loxP sites in introns 3 and 5 after a floxed neo cassette was excised via cre-mediated recombination in ES cells. J:77844 TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1.1, Stefan Karlsson" A floxed genomic fragment encompassing exon 4 and a neo cassette was deleted via cre-mediated recombination in ES cells. A single loxP site was left upstream of exon 5. J:77844 TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1, Harold L Moses" "A construct, in which exon 2 was surrounded by a loxP site in intron 1 and a floxed neo gene in intron 2, was incorporated at the endogenous locus via homologous recombination." J:75073 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1.1, Harold L Moses" "This allele is derived from Tgfbr2. Expression of cre recombinase at the one cell stage resulted in the excision of the floxed region containing exon 2, neo, and an intervening loxP site." J:75073 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation TGFBR2 MGI:98729 Tgfbr2 7 Tgfbr2 "targeted mutation 1.2, Harold L Moses" This allele is derived from Tgfbr2. Expression of cre recombinase at the one cell stage resulted in the excision of the floxed region containing the neo transgene. Two single loxP sites were left flanking exon 2. J:75073 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" TIE1 MGI:99906 Tie1 4 Tie1 "targeted mutation 1, Thomas N Sato" "A neomycin selection cassette was inserted into the first coding exon, at the position corresponding to the second amino acid within the signal peptide sequence." J:26844 J:79305 TIE2 MGI:98664 Tek 3 Tek "targeted mutation 1, Daniel J Dumont" "A neomycin selection cassette replaced sequences in exon 1, which encode the translation start site and the first 17 amino acids of the protein." J:20015 J:54983 TIE2 MGI:98664 Tek 3 Tek "targeted mutation 1, Thomas N Sato" "A neomycin selection cassette was inserted into exon 2, just after sequences encoding the signal pepetide." J:26844 J:79305 TIE2 MGI:99906 Tie1 4 Tie1 "targeted mutation 1, Juha Partanen" A lacZ gene followed by a loxP-flanked neomycin selection cassette replaced coding sequences in the first coding exon such that the lacZ gene was expressed under the control of the endogenous promoter. Histochemical analysis confirmed that a beta-galacto sidase protein was expressed from this allele. J:30121 J:36215 J:54983 J:81179 TIE3 MGI:99906 Tie1 4 Tie1 "targeted mutation 1.1, Juha Partanen" This allele is a derivative of Tie1 in which the loxP-flanked neomycin selection cassette was removed in ES cells by Cre mediated recombination prior to the production of chimeric mice. J:30121 J:36215 J:54983 TIF1b MGI:109274 Trim28 4 Trim28 "targeted mutation 1.2, Pierre Chambon" Deletion of exons 4-14 of the coding region as follows: A PGK-neomycin cassette flanked by two loxP sites was introduced into intron 3 and a loxP site was introduced into exon 14. Mice positive for the presence of this allele were mated to CMV-Cre transg enic mice to generate mice in which the loxP flanked sequences were deleted. J:62628 TIF1b MGI:109274 Trim28 4 Trim28 "targeted mutation 1.1, Pierre Chambon" Insertion of loxP sites as follows: A PGK-neomycin cassette flanked by two loxP sites was introduced into intron 3 and a loxP site was introduced into intron 14. Mice positive for the presence of this allele were mated to CMV-Cre transgenic mice to gener ate mice in which the PGK-neomycin cassette sequences were deleted. J:62628 TIF1b MGI:109274 Trim28 4 Trim28 "targeted mutation 1, Pierre Chambon" Insertion of a PGK-neomycin cassette and loxP sites as follows: A PGK-neomycin cassette flanked by two loxP sites was introduced into intron 3 and a loxP site was introduced into intron 14. J:62628 TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Mariano Barbacid" Sequences encoding 51 amino acids of the kinase catalytic domain were replaced with a neomycin cassette. RNase protection analysis on tissues isolated from homozygous mutant mice failed to identify any Ntrk1 transcripts. J:17194 J:28575 J:34321 J:35563 J:36236 J:36756 J:41896 J:43425 J:60772 J:72722 J:77445 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Mariano Barbacid" Sequences encoding 51 amino acids of the kinase catalytic domain were replaced with a neomycin cassette. RNase protection analysis on tissues isolated from homozygous mutant mice failed to identify any Ntrk1 transcripts. J:17194 J:28575 J:34321 J:35563 J:36236 J:36756 J:41896 J:43425 J:60772 J:72722 J:77445 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Mariano Barbacid" Sequences encoding 51 amino acids of the kinase catalytic domain were replaced with a neomycin cassette. RNase protection analysis on tissues isolated from homozygous mutant mice failed to identify any Ntrk1 transcripts. J:17194 J:28575 J:34321 J:35563 J:36236 J:36756 J:41896 J:43425 J:60772 J:72722 J:77445 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Mariano Barbacid" Sequences encoding 51 amino acids of the kinase catalytic domain were replaced with a neomycin cassette. RNase protection analysis on tissues isolated from homozygous mutant mice failed to identify any Ntrk1 transcripts. J:17194 J:28575 J:34321 J:35563 J:36236 J:36756 J:41896 J:43425 J:60772 J:72722 J:77445 MGI:2173537 eye: corneal or lens defect complete or partial opacity of the lens or cornea\nExample: cataract TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Mariano Barbacid" Sequences encoding 51 amino acids of the kinase catalytic domain were replaced with a neomycin cassette. RNase protection analysis on tissues isolated from homozygous mutant mice failed to identify any Ntrk1 transcripts. J:17194 J:28575 J:34321 J:35563 J:36236 J:36756 J:41896 J:43425 J:60772 J:72722 J:77445 MGI:2173540 coat: hair texture defects "irregular or unusual appearance of the structure of the hair\nExample: waved hair, mottled fur, shiny fur" TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Mariano Barbacid" Sequences encoding 51 amino acids of the kinase catalytic domain were replaced with a neomycin cassette. RNase protection analysis on tissues isolated from homozygous mutant mice failed to identify any Ntrk1 transcripts. J:17194 J:28575 J:34321 J:35563 J:36236 J:36756 J:41896 J:43425 J:60772 J:72722 J:77445 MGI:2173545 skin: texture/condition anomalies "malformed or atypical condition of the skin\nExample: scaly skin, flaky skin, hyperkeratosis" TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Mariano Barbacid" Sequences encoding 51 amino acids of the kinase catalytic domain were replaced with a neomycin cassette. RNase protection analysis on tissues isolated from homozygous mutant mice failed to identify any Ntrk1 transcripts. J:17194 J:28575 J:34321 J:35563 J:36236 J:36756 J:41896 J:43425 J:60772 J:72722 J:77445 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Mariano Barbacid" Sequences encoding 51 amino acids of the kinase catalytic domain were replaced with a neomycin cassette. RNase protection analysis on tissues isolated from homozygous mutant mice failed to identify any Ntrk1 transcripts. J:17194 J:28575 J:34321 J:35563 J:36236 J:36756 J:41896 J:43425 J:60772 J:72722 J:77445 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" TRKA MGI:97383 Ntrk1 3 Ntrk1 "targeted mutation 1, Luis F Parada" A PGK-neomycin resistance cassette replaced all coding sequences except the first 53 nucleotides of the exon that contains the translation initiation codon. J:60927 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Mariano Barbacid" "Gene disruption by insertion of a PGK-neomycin cassette into exon K2, which encodes subdomains III - V of the tyrosine kinase domain." J:29245 J:35563 J:36236 J:36756 J:41896 J:42663 J:43425 J:44795 J:49747 J:52165 J:56847 J:62766 J:77515 J:79303 J:82756 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Mariano Barbacid" "Gene disruption by insertion of a PGK-neomycin cassette into exon K2, which encodes subdomains III - V of the tyrosine kinase domain." J:29245 J:35563 J:36236 J:36756 J:41896 J:42663 J:43425 J:44795 J:49747 J:52165 J:56847 J:62766 J:77515 J:79303 J:82756 MGI:2173568 neurological/behavioral: learning/memory impairment "altered ability to receive, store or recall informational stimuli Example: senility, spatial learning impairment" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Mariano Barbacid" "Gene disruption by insertion of a PGK-neomycin cassette into exon K2, which encodes subdomains III - V of the tyrosine kinase domain." J:29245 J:35563 J:36236 J:36756 J:41896 J:42663 J:43425 J:44795 J:49747 J:52165 J:56847 J:62766 J:77515 J:79303 J:82756 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Mariano Barbacid" "Gene disruption by insertion of a PGK-neomycin cassette into exon K2, which encodes subdomains III - V of the tyrosine kinase domain." J:29245 J:35563 J:36236 J:36756 J:41896 J:42663 J:43425 J:44795 J:49747 J:52165 J:56847 J:62766 J:77515 J:79303 J:82756 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Mariano Barbacid" "Gene disruption by insertion of a PGK-neomycin cassette into exon K2, which encodes subdomains III - V of the tyrosine kinase domain." J:29245 J:35563 J:36236 J:36756 J:41896 J:42663 J:43425 J:44795 J:49747 J:52165 J:56847 J:62766 J:77515 J:79303 J:82756 MGI:2173574 neurological/behavioral: feeding/drinking anomalies "inability to eat or drink, or unusual choice or avoidance of foods or drink Example: adipsia, aphagia" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Mariano Barbacid" "Gene disruption by insertion of a PGK-neomycin cassette into exon K2, which encodes subdomains III - V of the tyrosine kinase domain." J:29245 J:35563 J:36236 J:36756 J:41896 J:42663 J:43425 J:44795 J:49747 J:52165 J:56847 J:62766 J:77515 J:79303 J:82756 MGI:2173614 central nervous system: LTP anomalies alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells Example: defect in long term potentiation TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Mariano Barbacid" "Gene disruption by insertion of a PGK-neomycin cassette into exon K2, which encodes subdomains III - V of the tyrosine kinase domain." J:29245 J:35563 J:36236 J:36756 J:41896 J:42663 J:43425 J:44795 J:49747 J:52165 J:56847 J:62766 J:77515 J:79303 J:82756 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Rudiger Klein" "Point mutation of tyrosine 515 to phenylalanine, and insertion of an frt-flanked neomycin resistance cassette into an adjacent intron." J:49472 J:61340 J:75365 J:78747 MGI:2173576 neurological/behavioral: other anomalies "abnormal behaviors not attributable to other categories Example: abnormal mating preference, abnormal grooming" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Rudiger Klein" "Point mutation of tyrosine 515 to phenylalanine, and insertion of an frt-flanked neomycin resistance cassette into an adjacent intron." J:49472 J:61340 J:75365 J:78747 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 2, Rudiger Klein" "Insertion of loxP sites flanking exon K2, encoding sequences in the kinase domain of the protein. An adjacent frt-flanked neomycin cassette was removed by crossing to transgenic mice expressing the Flp recombinase. This mutation had no effect on the norm al function of the gene." J:58229 MGI:2173568 neurological/behavioral: learning/memory impairment "altered ability to receive, store or recall informational stimuli Example: senility, spatial learning impairment" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 2, Rudiger Klein" "Insertion of loxP sites flanking exon K2, encoding sequences in the kinase domain of the protein. An adjacent frt-flanked neomycin cassette was removed by crossing to transgenic mice expressing the Flp recombinase. This mutation had no effect on the norm al function of the gene." J:58229 MGI:2173614 central nervous system: LTP anomalies alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells Example: defect in long term potentiation TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 2, Rudiger Klein" "Insertion of loxP sites flanking exon K2, encoding sequences in the kinase domain of the protein. An adjacent frt-flanked neomycin cassette was removed by crossing to transgenic mice expressing the Flp recombinase. This mutation had no effect on the norm al function of the gene." J:58229 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" TRKB MGI:97384 Ntrk2 5 Ntrk2 "targeted mutation 1, Louis F Reichardt" The first exon (exon S) was replaced with a floxed full-length cDNA copy of the gene followed by a PGK-neo-loxP cassette and a tau-lacZ cassette. The PGK-neo-loxP cassette was removed in correctly targeted ES cells via transient expression of cre recombin J:69123 J:74960 J:77452 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Mariano Barbacid" "Insertion of a neomycin cassette into exon K2, which encodes part of the kinase domain of the protein. An alternatively spliced mRNA was detectable in an RNase protection analysis on tissues derived from homozygous mutant mice; these transcripts spliced from exon K1 to K3. A partial protein product is predicted to be expressed from this allele." J:17195 J:29245 J:35563 J:36236 J:36756 J:41896 J:43425 J:44795 J:49747 J:52165 J:77445 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Mariano Barbacid" "Insertion of a neomycin cassette into exon K2, which encodes part of the kinase domain of the protein. An alternatively spliced mRNA was detectable in an RNase protection analysis on tissues derived from homozygous mutant mice; these transcripts spliced from exon K1 to K3. A partial protein product is predicted to be expressed from this allele." J:17195 J:29245 J:35563 J:36236 J:36756 J:41896 J:43425 J:44795 J:49747 J:52165 J:77445 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Mariano Barbacid" "Insertion of a neomycin cassette into exon K2, which encodes part of the kinase domain of the protein. An alternatively spliced mRNA was detectable in an RNase protection analysis on tissues derived from homozygous mutant mice; these transcripts spliced from exon K1 to K3. A partial protein product is predicted to be expressed from this allele." J:17195 J:29245 J:35563 J:36236 J:36756 J:41896 J:43425 J:44795 J:49747 J:52165 J:77445 MGI:2173571 neurological/behavioral: motor capabilities/coordination/movement anomalies "altered ability to coordinate voluntary movement or repetitive, compulsive movements\nExample: circling, head tilt, ataxia, impaired balance" TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Mariano Barbacid" "Insertion of a neomycin cassette into exon K2, which encodes part of the kinase domain of the protein. An alternatively spliced mRNA was detectable in an RNase protection analysis on tissues derived from homozygous mutant mice; these transcripts spliced from exon K1 to K3. A partial protein product is predicted to be expressed from this allele." J:17195 J:29245 J:35563 J:36236 J:36756 J:41896 J:43425 J:44795 J:49747 J:52165 J:77445 MGI:2173572 neurological/behavioral: sensory capabilities/reflexes/nociception abnormalities "inability or altered ability to respond to a sensory stimulus\nExample: startle reflex, abnormal pain response" TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Mariano Barbacid" "Insertion of a neomycin cassette into exon K2, which encodes part of the kinase domain of the protein. An alternatively spliced mRNA was detectable in an RNase protection analysis on tissues derived from homozygous mutant mice; these transcripts spliced from exon K1 to K3. A partial protein product is predicted to be expressed from this allele." J:17195 J:29245 J:35563 J:36236 J:36756 J:41896 J:43425 J:44795 J:49747 J:52165 J:77445 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Luis F Parada" Insertion of a neomycin cassette into the first coding exon of the gene. No protein was detectable in Western blots of lysates from newborn homozygous mutant mouse brains. J:44286 J:45083 J:62766 J:77445 J:80793 J:81470 MGI:2173527 survival: postnatal lethality premature death anytime after postnatal day 1 to weaning age (3 weeks)\nExample: failure to thrive TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Luis F Parada" Insertion of a neomycin cassette into the first coding exon of the gene. No protein was detectable in Western blots of lysates from newborn homozygous mutant mouse brains. J:44286 J:45083 J:62766 J:77445 J:80793 J:81470 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Luis F Parada" Insertion of a neomycin cassette into the first coding exon of the gene. No protein was detectable in Western blots of lysates from newborn homozygous mutant mouse brains. J:44286 J:45083 J:62766 J:77445 J:80793 J:81470 MGI:2173592 respiratory system: dysmorphology abnormal development of respiratory tissues resulting in morphological abnormality\nExample: atelactasis TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Luis F Parada" Insertion of a neomycin cassette into the first coding exon of the gene. No protein was detectable in Western blots of lysates from newborn homozygous mutant mouse brains. J:44286 J:45083 J:62766 J:77445 J:80793 J:81470 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" TRKC MGI:97385 Ntrk3 4 Ntrk3 "targeted mutation 1, Rudiger Klein" A tyrosine to phenylalanine substitution was introduced at residue 516 (Y516F) of the Shc adaptor binding site and a floxed neo cassette was inserted into the upstream intron via homologous recombination. The neo cassette was removed by mating mutant anim als to cre deleter line TgN(CMV-cre)1Cgn. J:75365 MGI:2173617 peripheral nervous system: dysmorphology "any malformation or anomaly in the nervous system outside of the brain and spinal cord, consisting of the autonomic and somatic divisions Example: hyperinnervation, abnormal target finding" TTN MGI:98864 Ttn 3 Ttn muscular dystrophy with myositis J:14016 J:74611 TTN MGI:98864 Ttn 3 Ttn "targeted mutation 1, Joachim Herz" "Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the fl oxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360." J:81993 MGI:2173525 survival: embryonic lethality death anytime between fertilization and E18.5\nExample: growth arrest at gastrulation TTN MGI:98864 Ttn 3 Ttn "targeted mutation 1, Joachim Herz" "Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the fl oxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360." J:81993 MGI:2173528 survival: premature death "death after 3 weeks of age, but before normal life span\nExample: reduced life span" TTN MGI:98864 Ttn 3 Ttn "targeted mutation 1, Joachim Herz" "Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the fl oxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360." J:81993 MGI:2173534 growth/weight/body size abnormality: postnatal "increased or decreased average body size, or adipose tissue abnormalities manifesting after birth Example: obesity, weight loss, abnormal fat pad distribution" TTN MGI:98864 Ttn 3 Ttn "targeted mutation 1, Joachim Herz" "Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the fl oxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360." J:81993 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" TTN MGI:98864 Ttn 3 Ttn "targeted mutation 1, Joachim Herz" "Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the fl oxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360." J:81993 MGI:2173559 musculature: physiological defects "loss of or reduced power of voluntary movement in muscle, not due to an anatomical defect\nExample: spasms, paralysis, weakness, muscle degeneration" TTN MGI:98864 Ttn 3 Ttn "targeted mutation 1, Joachim Herz" "Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the fl oxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360." J:81993 MGI:2173591 heart/cardiovascular system: no defect detected "no anomaly observed in examination of heart or vascular tissue or in cardiovascular function\nExample: normal heart, normal vasculature" TTN MGI:98864 Ttn 3 Ttn "targeted mutation 1, Joachim Herz" "Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the fl oxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360." J:81993 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" TXK MGI:102960 Txk 2 Txk "targeted mutation 1, Pamela L Schwartzberg" Exon 6 was disrupted by the insertion of neo and multiple stop codons. Neither full length nor truncated protein products were detected by Western blot analyses of homozygous mutant lymphoid cell extracts. An splentocyte assay indicated an absence of endo genous kinase activity in homozgyous mutant mice. J:54449 J:72934 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" TXK MGI:102960 Txk 2 Txk "targeted mutation 1, Pamela L Schwartzberg" Exon 6 was disrupted by the insertion of neo and multiple stop codons. Neither full length nor truncated protein products were detected by Western blot analyses of homozygous mutant lymphoid cell extracts. An splentocyte assay indicated an absence of endo genous kinase activity in homozgyous mutant mice. J:54449 J:72934 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" TXK MGI:102960 Txk 2 Txk "targeted mutation 1, Pamela L Schwartzberg" Exon 6 was disrupted by the insertion of neo and multiple stop codons. Neither full length nor truncated protein products were detected by Western blot analyses of homozygous mutant lymphoid cell extracts. An splentocyte assay indicated an absence of endo genous kinase activity in homozgyous mutant mice. J:54449 J:72934 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" TXK MGI:102960 Txk 2 Txk "targeted mutation 1, Pamela L Schwartzberg" Exon 6 was disrupted by the insertion of neo and multiple stop codons. Neither full length nor truncated protein products were detected by Western blot analyses of homozygous mutant lymphoid cell extracts. An splentocyte assay indicated an absence of endo genous kinase activity in homozgyous mutant mice. J:54449 J:72934 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TXK MGI:102960 Txk 2 Txk "targeted mutation 1, Pamela L Schwartzberg" Exon 6 was disrupted by the insertion of neo and multiple stop codons. Neither full length nor truncated protein products were detected by Western blot analyses of homozygous mutant lymphoid cell extracts. An splentocyte assay indicated an absence of endo genous kinase activity in homozgyous mutant mice. J:54449 J:72934 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TXK MGI:102960 Txk 2 Txk "targeted mutation 1, Pamela L Schwartzberg" Exon 6 was disrupted by the insertion of neo and multiple stop codons. Neither full length nor truncated protein products were detected by Western blot analyses of homozygous mutant lymphoid cell extracts. An splentocyte assay indicated an absence of endo genous kinase activity in homozgyous mutant mice. J:54449 J:72934 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TXK MGI:102960 Txk 2 Txk "targeted mutation 1, Pamela L Schwartzberg" Exon 6 was disrupted by the insertion of neo and multiple stop codons. Neither full length nor truncated protein products were detected by Western blot analyses of homozygous mutant lymphoid cell extracts. An splentocyte assay indicated an absence of endo genous kinase activity in homozgyous mutant mice. J:54449 J:72934 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYK2 MGI:1929470 Tyk2 2 Tyk2 "targeted mutation 1, Kazuya Shimoda" A neomycin selection cassette inserted by homologous recombination replaced the first coding exon of the endogenous locus. Protein was undetected by immunoprecipitation and Western blot analysis spleen lysates obtained from homozygous mutant mice. J:65408 J:65409 J:79815 J:83115 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYK2 MGI:1929470 Tyk2 2 Tyk2 "targeted mutation 1, Kazuya Shimoda" A neomycin selection cassette inserted by homologous recombination replaced the first coding exon of the endogenous locus. Protein was undetected by immunoprecipitation and Western blot analysis spleen lysates obtained from homozygous mutant mice. J:65408 J:65409 J:79815 J:83115 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYK2 MGI:1929470 Tyk2 2 Tyk2 "targeted mutation 1, Kazuya Shimoda" A neomycin selection cassette inserted by homologous recombination replaced the first coding exon of the endogenous locus. Protein was undetected by immunoprecipitation and Western blot analysis spleen lysates obtained from homozygous mutant mice. J:65408 J:65409 J:79815 J:83115 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYK2 MGI:1929470 Tyk2 2 Tyk2 "targeted mutation 1, Kazuya Shimoda" A neomycin selection cassette inserted by homologous recombination replaced the first coding exon of the endogenous locus. Protein was undetected by immunoprecipitation and Western blot analysis spleen lysates obtained from homozygous mutant mice. J:65408 J:65409 J:79815 J:83115 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173536 eye: dysmorphology "abnormal development of the eye tissue resulting in morphological abnormality Example: small eye, missing eye" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173587 heart/cardiovascular system: dysmorphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality\nExample: abnormal looping, enlarged heart, valve defects" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173598 liver/hepatic system: dysmorphology abnormal development of liver resulting in morphological abnormality Example: hypoplastic liver TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173612 central nervous system: brain dysmorphology "abnormal development of the brain resulting in morphological abnormality Example: disorganized hippocampus layers, cerebellar foliation anomalies" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173621 reproductive system: fertility/fecundity anomalies "reduced ability or inability to produce live offspring Example: infertility, reduced fertility" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173623 glands: dysmorphology "abnormal development of any glandular tissue resulting in morphological abnormality Example: enlarged pituitary, enlarged adrenal glands" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173604 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173605 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2654788 immune system: cellular abnormalities "anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development anomalous structure or development of immune cells Example: absence of dendritic cells, arrest of B cell development" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173606 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2654789 immune system: organ abnormalities "anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes anomalous structure or development of lymphoid organs Example: splenomegaly, athymia, lack of germinal centers in lymph nodes" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173607 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173608 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173609 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2654791 immune system: response/function abnormalities "altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity altered immune response not due to anatomical defect Example: inflammation, infection, wound healing abnormalities, hypersensitivity" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173595 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2173620 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" TYRO3 MGI:104294 Tyro3 2 Tyro3 "targeted mutation 1, Greg Lemke" A neomycin selection cassette replaced sequences containing exon 9 and part of exon 10. Western blot analysis on brain lysates derived from homozygous mice confirmed that no detectable protein was produced from this allele. J:54681 J:70420 MGI:2654792 urogenital system: dysmorphology "abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes abnormal development of the urogenital system resulting in morphological abnormality Example: abnormal kidney, abnormal ovaries, abnormal bladder, abnormal testes" YES MGI:99147 Yes 3 Yes "targeted mutation 1, Philippe Soriano" "The yes gene was disrupted by insertion of a neomycin cassette into exon 7, which encodes the beginning of the kinase domain. A partial protein product has been reported in some cell types (see J:54973)." J:20346 J:54973 J:59158 J:70507 J:72125 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" YES MGI:99147 Yes 3 Yes "targeted mutation 2, Philippe Soriano" "The yes gene was disrupted by insertion of an in-frame promoterless lacZ-neomycin gene fusion into exon 7, which encodes the beginning of the kinase domain." J:20346 J:72125 MGI:2173629 no phenotype: no defect detected "normal, viable and fertile appearance and behavior; indistinguishable from wild type Example: viable and fertile" ZAP70 MGI:99613 Zap70 6 Zap70 "targeted mutation 1, Arthur Weiss" "A neomycin resistance cassette replaced a genomic fragment containing sequences corresponding to amino acids 221 to 520, which encode the C-terminal SH2 domain. Western blot analysis on thymocytes derived from homozygous mice confirmed that no detectabl e protein is expressed from this allele." J:71098 J:74974 J:74994 ZAP70 MGI:99613 Zap70 6 Zap70 "targeted mutation 1, Marie Malissen" A tyrosine to phenylalanine substitution at residue 292 (Y292F) was introduced into exon 6 and a floxed neo cassette was inserted into the downstream intron via homologous recombination. J:71099 ZAP70 MGI:99613 Zap70 6 Zap70 "targeted mutation 1.1, Marie Malissen" "The intronic floxed neo cassette was excised from Zap70 animals by crossing to a cre-expressing deleter strain, leaving behind a tyrosine to phenylalanine knock-in mutation at position 292 (Y292F). Expression of the mutant allele was confirmed by sequence analysis of RT-PCR products from thymus of mutant animals." J:71099 ZAP70 MGI:99613 Zap70 6 Zap70 "targeted mutation 2, Marie Malissen" A tyrosine to phenylalanine substitution at residue 315 (Y315F) was introduced into exon 7 and a floxed neo cassette was inserted into the intron upstream of exon 3 via homologous recombination. J:71099 ZAP70 MGI:99613 Zap70 6 Zap70 "targeted mutation 2.1, Marie Malissen" "The intronic floxed neo cassette was excised from Zap70 animals by crossing to a cre-expressing deleter strain, leaving behind a tyrosine to phenylalanine knock-in mutation at position 315 (Y315F). Expression of the mutant allele was confirmed by sequence analysis of RT-PCR products from thymus of mutant animals." J:71099 ZC1 MGI:1349394 Map4k4 2 Map4k4 "targeted mutation 1, Edward Y Skolnik" "Replacement of half of exon 6 and all of exon 7, encoding part of the kinase domain, with a neomycin cassette. mRNA was undetectable in Northern blots in homozygous ES cells and in fibroblasts derived from homozyogous mutant mice." J:68215