A T to A point mutation in the 5' splice site of the STAT2 intron 4-5 results in the cryptic splicing of Stat2 mRNA by using a new 5' splice site GU located three nucleotides downstream of the mutation. The alternative splicing caused frame-shift and created stop codons which left out critical domains of STAT2 protein including DNA binding domain, Src homology 2 and transactivation domains. The mutation is hypomorphic as some wild-type protein is still detectable. (J:164049)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
3
1

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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