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Allele : Atm<tm2.1Shzh> ataxia telangiectasia mutated; targeted mutation 2.1, Shan Zha

Primary Identifier  MGI:7524008 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Atm
Transmission  Germline Strain of Origin  Not Specified
Is Recombinase  false Is Wild Type  false
molecularNote  A CGT to CAT change resulting in an arginine to histidine substitution at amino acid 3016 (p.R3016H, corresponding to p.R3015H on build GRCm39) was introduced into the last coding exon 62 and an FRT-flanked neomycin resistance cassette was inserted upstream of exon 62. The neomycin selection cassette was removed via flp-mediated recombination. This mutation corresponds to the cancer-associated PI3-kinase regulatory domain mutation R3008H in humans.
  • mutations:
  • Single point mutation
  • synonyms:
  • Atm<R>,
  • Atm<R3016H>,
  • Atm<R3016H>,
  • Atm<R>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

3 Publication categories

Trail: Allele