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Allele : Atm<m5Btlr> ataxia telangiectasia mutated; mutation 5, Bruce Beutler

Primary Identifier  MGI:6285932 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=3671
molecularNote  ENU-induced T to A transversion at base pair 53,479,673 (v38) on chromosome 9, or base pair 57,144 in the GenBank genomic region NC_000075. The mutation corresponds to residue 5,739 in the mRNA sequence NM_007499 within exon 36 of 64 total exons. The mutation results in a leucine to glutamine substitution at amino acid 1,867 (L1867Q) in the ATM protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • osphere,
  • osphere
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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