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<m1>	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<tm1Mlg>	"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<tm1Mlg>	"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<tm1Mlg>	"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<tm1Mlg>	"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<tm1Mlg>	"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<tm1Mlg>	"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<tm1Zuk>	"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<tm1Zuk>	"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<tm1Zuk>	"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<tm1Zuk>	"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<tm1Zuk>	"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<tm1Zuk>	"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<tm1Zuk>	"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<tm1Zuk>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Mbb>	"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<tm1Nhy>	"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<tm1Mbb>	"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<tm1.1Mbb>	"targeted mutation 1.1, Morris J Birnbaum"	"This allele is a derivative of Akt2<tm1Mbb>. 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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Bhr>	"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<tm1Bhr>	"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<tm1Bhr>	"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<tm1Bhr>	"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<tm1Nagy>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Enl>	"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<tm1Vio>	"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<tm1.1Vio>	"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<tm1Vio> 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<tm1Pmh>	"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<tm1Pmh>	"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<tm1Pmh>	"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<tm1Pmh>	"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<tm1Pmh>	"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<tm1Pmh>	"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<tm1Pmh>	"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<tm1Pmh>	"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<Gt(VICTR20)11Lex>	"gene trap mutation 11, Lexicon Genetics Inc"	 	J:46940				 
ANPa	MGI:97371	Npr1	6	Npr1<tm1Mae>	"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<tm1(Npr1)Smi>	"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<tm1Gar>	"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<tm1Kuhn>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Mmc>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Ajk>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Awb>	"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<tm1Bal>	"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<tm1Bal>	"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<tm1Bal>	"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<tm1Bal>	"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<tm1Bal>	"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<tm1Bal>	"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<tm1Led>	"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<tm1Led>	"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<tm1Led>	"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<tm1Led>	"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<tm1Led>	"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<tm1Led>	"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<tm1Led>	"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<tm1Led>	"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<tm1Pmc>	"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<tm1Pmc>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Fwa>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Mfl>	"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<tm1Bal>	"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<tm1Bal>	"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<tm1Bal>	"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<tm1Akl>	"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<tm1Akl>	"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<tm2Bal>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Grl>	"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<tm1Mca>	"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<tm1Mca>	"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<tm1Mca>	"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<tm1Hkp>	"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<tm1Hkp>	"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<tm1Hkp>	"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<tm1(BCR/ABL)Isg>	"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<tm2Isg>	"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<tm1Tara>	"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<tm1Bhr>	"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<tm1Bhr>	"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<tm1Bhr>	"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<tm1Bhr>	"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<tm1Bhr>	"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<tm1Bhr>	"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<tm2Bhr>	"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<tm2.1Bhr>	"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<tm2.1Bhr>	"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<tm2.1Bhr>	"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<tm2.1Bhr>	"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<tm2.2Bhr>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Kml>	"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<Tg(ACTB-flp)4917Dym>	"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<tm1Kmi>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Kml>	"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<tm1Ali>	"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<tm1Zim>	"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<tm1Zim>	"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<tm1Zim>	"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<tm1Zim>	"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<xid>	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<xid>	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<xid>	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<xid>	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<xid>	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<xid>	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<xid>	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<tm1Wk>	"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<tm1Wk>	"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<tm1Wk>	"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<tm1Wk>	"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<tm1Wk>	"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<tm1Wk>	"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<tm1Wk>	"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<tm1Wk>	"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 abnormalit