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)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count