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Allele : Prkdc<M16Btlr> protein kinase, DNA activated, catalytic polypeptide; mutation 16, Bruce Beutler

Primary Identifier  MGI:6285484 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Prkdc
Inheritance Mode  Semidominant Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced T to A transition at base pair 15,717,801 (v38) on chromosome 16, or base pair 80,359 in the GenBank genomic region NC_000082 for Prkdc. The mutation corresponds to residue 5,047 in the mRNA sequence NM_011159 within exon 38 of 86 total exons. The mutation results in a leucine to glutamine substitution at position 1,675 (L1675Q) in the DNA-PKCS protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • Tweetie,
  • Tweetie
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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