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Allele : Atm<tm1Mfl> ataxia telangiectasia mutated; targeted mutation 1, Martin F Lavin

Primary Identifier  MGI:2181756 Allele Type  Targeted
Attribute String  Null/knockout Gene  Atm
Transmission  Germline Strain of Origin  129T2/SvEms
Is Recombinase  false Is Wild Type  false
molecularNote  A 9 base pair in-frame deletion was introduced into exon 54 between nucleotides 7666-7674, deleting amino acids serine, arginine and isoleucine. This corresponds to the 7636del9 human ATM mutation, one of the most common deletion mutations found in human patients. A PGK neo/gpt cassette was also inserted into the intron adjacent to exon 54 and subsequently deleted via a Cre/loxP recombination event. As determined by immunoblotting, no ATM-kinase activity was detected.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • Atm-deltaSRI,
  • SRI,
  • SRI,
  • deltaSRI,
  • deltaSRI,
  • Atm-deltaSRI
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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

8 Publication categories

Trail: Allele