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Targeted Allele Detail
Symbol: Atmtm1Mfl
Name: ataxia telangiectasia mutated; targeted mutation 1, Martin F Lavin
MGI ID: MGI:2181756
Synonyms: Atm-deltaSRI, deltaSRI, SRI
Gene: Atm  Location: Chr9:53439149-53536740 bp, - strand  Genetic Position: Chr9, 29.12 cM, cytoband C-D
Germline Transmission:  Earliest citation of germline transmission: J:69726
Parent Cell Line:  C1368 (ES Cell)
Strain of Origin:  129T2/SvEms
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
Mutation detailsA 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. (J:69726)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Atm Mutation:  109 strains or lines available
Original:  J:69726 Spring K, et al., Atm knock-in mice harboring an in-frame deletion corresponding to the human ATM 7636del9 common mutation exhibit a variant phenotype. Cancer Res. 2001 Jun 1;61(11):4561-8
All:  5 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory