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Allele : Atm<m3Btlr> ataxia telangiectasia mutated; mutation 3, Bruce Beutler

Primary Identifier  MGI:6285924 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=3971
molecularNote  ENU-induced T to C transition at base pair 53,531,648 (v38) on chromosome 9, or base pair 5,169 in the GenBank genomic region NC_000075. The mutation corresponds to residue 453 in the mRNA sequence NM_007499 within exon 4 of 64 total exons. The mutation results in an isoleucine to threonine substitution at amino acid 105 (I105T) in the ATM protein.
  • mutations:
  • Single point mutation
  • synonyms:
  • tropo,
  • tropo
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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