Atm^tm2.1Shzh
Targeted Allele Detail

Summary

• Symbol: Atm^tm2.1Shzh
• Name: ataxia telangiectasia mutated; targeted mutation 2.1, Shan Zha
• MGI ID: MGI:7524008
• Synonyms: Atm^R, Atm^R3016H
• Gene: Atm Location: Chr9:53350449-53448040 bp, - strand Genetic Position: Chr9, 29.12 cM, cytoband C-D
• Alliance: Atm^tm2.1Shzh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:320768
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A CGT to CAT change resulting in an arginine to histidine substitution at amino acid 3016 (p.R3016H, corresponding to p.R3015H on build GRCm39) was introduced into the last coding exon 62 and an FRT-flanked neomycin resistance cassette was inserted upstream of exon 62. The neomycin selection cassette was removed via flp-mediated recombination. This mutation corresponds to the cancer-associated PI3-kinase regulatory domain mutation R3008H in humans. (J:320768)

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: 167 strains or lines available

References

• Original: J:320768 Milanovic M, et al., The Cancer-Associated ATM R3008H Mutation Reveals the Link between ATM Activation and Its Exchange. Cancer Res. 2021 Jan 15;81(2):426-437
• All: 1 reference(s)