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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 for all genotypes (concatenated display).
Disease models
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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:  30 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory