ENU-induced A to T transversion at base pair 52,123,209 (v38) on chromosome 1, or base pair 3,772 in the GenBank genomic region NC_000067 encoding Stat1. The mutation corresponds to residue 523 in the mRNA sequence NM_001205313 within exon 4 of 25 total exons. The mutation results in an asparagine to isoleucine substitution at amino acid 75 (N75I) in the STAT1 protein. (J:274938)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
8
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Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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