129S6/SvEvTac-Atm^tm1Awb/J

Stock number: 002753
Product name: ATM^-
Research areas: Cancer Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research

Description

Mice homozygous for Atm^tm1Awb display many of the characteristics of ataxia telangiectasia, including growth retardation, neurologic dysfunction, infertility, defects in T lymphocyte maturation, and extreme sensitivity to gamma-irradiation. Most homozygotes develop thymic lymphoma between 2 and 4 months of age.

Detailed description

Mice homozygous for the Atm^tm1Awb targeted mutation display many of the characteristics of ataxia telangiectasia, including growth retardation, neurologic dysfunction, infertility, defects in T lymphocyte maturation, and extreme sensitivity to gamma-irradiation. Most homozygotes develop thymic lymphoma between 2 and 4 months of age. Heterozygous mice display no abnormalities through eight months of age and are more sensitive to ionizing radiation than wildtype mice.

Development

This strain was developed in the laboratory of Dr. Anthony Wynshaw-Boris at the National Institutes of Health. The Atm gene was disrupted by using an insertion vector containing the neo resistance gene to produce a truncation mutation at approximately the site corresponding to that commonly mutated in ATM in many human beings with ataxia telangiectasia (AT).

Allele

Symbol: Atm^tm1Awb
Name: targeted mutation 1, Anthony Wynshaw Boris
MGI accession ID: MGI:1857132
Generation method: Targeted
Attributes: Null/Knockout; Humanized sequence
Synonyms: Atm-; ATM^-; Atm^ins5790neo; Atm^tm1Awbl
Marker symbol: Atm
Marker name: ataxia telangiectasia mutated
Marker synonyms: AT1; ATA; ATC; ATD; ATDC; ATE; C030026E19Rik; TEL1; TELO1
Chromosome: 9
Strain of origin: 129S6/SvEvTac
Molecular note: A PGK-neomycin cassette was inserted into position 5979 of the Atm gene. This mutation results in a truncated protein, and the position of the mutation corresponds to the location of truncation mutations known to exist in humans.