This mutation was identified in a screen of progeny of ENU-mutagenized mice for response to cytomegalovirus infection. It comprises a T-to-A transversion in exon 11 that results in replacement of valine by glutamic acid at amino acid position 319 (V319E), at the beginning of the DNA binding domain of the protein. Western blot analysis of macrophage protein detects low levels of STAT1. The protein fails to undergo normal phosphorylation of serine 727 or tyrosine 701 upon interferon treatment. (J:88776, J:105543)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
8
7

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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