Primary Identifier | MGI:4830698 | Allele Type | Chemically induced (ENU) |
Attribute String | Hypomorph | Gene | Stat2 |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
molecularNote | 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. |