Atm^tm1.1Mmpl
Targeted Allele Detail

Summary

• Symbol: Atm^tm1.1Mmpl
• Name: ataxia telangiectasia mutated; targeted mutation 1.1, Margot Mayer-Proschel
• MGI ID: MGI:5806239
• Synonyms: A-T [M], Atm^{tm1Mmpl A-T}
• Gene: Atm Location: Chr9:53350449-53448040 bp, - strand Genetic Position: Chr9, 29.12 cM, cytoband C-D
• Alliance: Atm^tm1.1Mmpl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:226414
• Parent Cell Line: W4 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Two 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)

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: 170 strains or lines available

References

• 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)