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Targeted Allele Detail
Symbol: Atmtm1.1Mmpl
Name: ataxia telangiectasia mutated; targeted mutation 1.1, Margot Mayer-Proschel
MGI ID: MGI:5806239
Synonyms: A-T [M], Atmtm1Mmpl A-T
Gene: Atm  Location: Chr9:53350449-53448040 bp, - strand  Genetic Position: Chr9, 29.12 cM, cytoband C-D
Germline Transmission:  Earliest citation of germline transmission: J:226414
Parent Cell Line:  W4 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsTwo loxP sites were inserted into the introns surrounding to exon 4. Flp-mediated recombination removed the FRT-flanked neomycin resistance cassette inserted into intron 3. Cre-mediated recombination removed exon 4. This allele is predicted to cause a frameshift mutation through the splicing of exon 3 to exon 5. Western blot analysis confirmed the absence of protein expression in fibroblasts. (J:226414)
View phenotypes and curated references 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: 0 strains available      Cell Lines: 0 lines available
Carrying any Atm Mutation:  125 strains or lines available
Original:  J:226414 Campbell A, et al., A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden. Hum Mol Genet. 2015 Nov 15;24(22):6331-49
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.17
The Jackson Laboratory