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Allele : Itk<m2Btlr> IL2 inducible T cell kinase; mutation 2, Bruce Beutler

Primary Identifier  MGI:6113416 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Itk
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced T to G transversion at base pair 46,338,099 (v38) on chromosome 11, or base pair 51,417 in the GenBank genomic region NC_000076 within the donor splice site of intron 12. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 12. The resulting transcript would have a 5-base pair insertion of intron 12, causing a frame shifted protein product beginning after amino acid 410 of the protein, which is normally 619 amino acids in length.
  • mutations:
  • Single point mutation
  • synonyms:
  • goodnow,
  • goodnow
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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