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Allele : Atm<m6Btlr> ataxia telangiectasia mutated; mutation 6, Bruce Beutler

Primary Identifier  MGI:6305816 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
description  https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4418
molecularNote  C to T substitution at base pair 53,518,559 (v38) on chromosome 9, or base pair 18,258 in the GenBank genomic region NC_000075. The mutation corresponds to a G>A substitution at residue 1,315 in the mRNA sequence NM_007499 within exon 9 of 64 total exons. The mutation results in substitution of tryptophan 392 for a premature stop codon (W392*) in the ATM protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • antebellum,
  • antebellum
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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