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Allele : Jak3<m8Btlr> Janus kinase 3; mutation 8, Bruce Beutler

Primary Identifier  MGI:6305331 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Jak3
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
description  https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=2372
molecularNote  T to A transversion at base pair 71,685,545 (v38) on chromosome 8, or base pair 9,163 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 2,849 in the mRNA sequence NM_010589 within exon 19 of 25 total exons, and to residue 2,849 in the mRNA sequence NM_001190830 within exon 19 of 24 total exons. he mutation results in a valine (V) to aspartic acid (D) substitution at position 880 (V880D) in the JAK3 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • thistle2,
  • thistle2
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories