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Allele : Atm<m2Btlr> ataxia telangiectasia mutated; mutation 2, Bruce Beutler

Primary Identifier  MGI:6200335 Allele Type  Chemically induced (ENU)
Attribute String  Not Specified Gene  Atm
Inheritance Mode  Recessive Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
Project Collection  Beutler Mutagenetix
molecularNote  ENU-induced T to C transition at base pair 53,488,587 (v38) on chromosome 9, or base pair 48,230 in the GenBank genomic region NC_000075. The mutation corresponds to residue 4,731 in the mRNA sequence NM_007499 within exon 29 of 64 total exons. The mutation results in a leucine to proline substitution at amino acid 1,531 (L1531P) in the ATM protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • mockingbird2,
  • mockingbird2
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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