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Allele : Jak3<m6Btlr> Janus kinase 3; mutation 6, Bruce Beutler

Primary Identifier  MGI:6284807 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=3764
molecularNote  ENU-induced A to C transversion at base pair 71,683,978 (v38) on chromosome 8, or base pair 7,596 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 2,138 in the mRNA sequence NM_010589 within exon 15 of 25 total exons. The mutation results in an asparagine to threonine substitution at position 643 (N643T) in the JAK3 protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • distortion,
  • distortion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele