Atm^tm2.1Mfgc
Targeted Allele Detail

Summary

• Symbol: Atm^tm2.1Mfgc
• Name: ataxia telangiectasia mutated; targeted mutation 2.1, Mammalian Functional Genomics Centre
• MGI ID: MGI:6714060
• Synonyms: Atm^R35X, Atm^{TM1.1(103CAG)TGA)Mfgc}
• Gene: Atm Location: Chr9:53350449-53448040 bp, - strand Genetic Position: Chr9, 29.12 cM, cytoband C-D
• Alliance: Atm^tm2.1Mfgc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:316365
• Parent Cell Line: C2 (Nagy) (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Glutamine codon 35 (CAG) in exon 2 was changed to a stop codon (TGA) (c.103_105CAG>TGA:p.Q35*). A loxP site flanked cassette, consisting of the human ACTB promoter, inactivated TK1 gene, sequence coding for T2A-self-cleaving peptide and neomycin resistance gene cassette, in intron 2 was excised by Cre-mediated recombination. (J:316365)

Disease models

Find Mice (IMSR)

• 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: 170 strains or lines available

References

• Original: J:316365 Perez H, et al., A novel, ataxic mouse model of ataxia telangiectasia caused by a clinically relevant nonsense mutation. Elife. 2021 Nov 1;10:e64695
• All: 1 reference(s)