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Allele : Stat2<p117> signal transducer and activator of transcription 2; pedigree p117

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.
  • mutations:
  • Single point mutation
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

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Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele