Atm^tm1Mfl
Targeted Allele Detail

Summary

• Symbol: Atm^tm1Mfl
• Name: ataxia telangiectasia mutated; targeted mutation 1, Martin F Lavin
• MGI ID: MGI:2181756
• Synonyms: Atm-deltaSRI, deltaSRI, SRI
• Gene: Atm Location: Chr9:53350449-53448040 bp, - strand Genetic Position: Chr9, 29.12 cM, cytoband C-D
• Alliance: Atm^tm1Mfl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:69726
• Parent Cell Line: C1368 (ES Cell)
• Strain of Origin: 129T2/SvEms

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A 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)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Atm^tm1Mfl

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Atm Mutation: 170 strains or lines available

References

• 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)