CByJ.129S6-Atm^tm1Awb/J

Stock number: 008465
Product name: ATM^-
Research areas: Cancer Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs, Neurobiology Research, Reproductive Biology Research

Description

These mice carry a truncation mutation of the Atm, ataxia telangiectasia mutated homolog (human), gene. This mutant mouse strain may be useful in studies of ataxia telangiectasia, neurodevelopment and thymic lymphoma.

Detailed description

Mice homozygous for this 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. Homozygotes are infertile. Heterozygous mice display no abnormalities through eight months of age and are more sensitive to ionizing radiation than wildtype mice. This mutant mouse strain may be useful in studies of ataxia telangiectasia, neurodevelopment and thymic lymphoma.

This mutation was originally characterized on the 129S6/SvEvTac background. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.

Importation of this model was supported by the A-T Children's Project.

Development

A targeting vector containing neomycin resistance was used to disrupt a 178 bp exon. The construct was electroporated into 129S6/SvEvTac derived TC-1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6J blastocysts. The resulting chimeric animals were crossed to 129S6/SvEvTac mice, and then backcrossed to BALB/cByJ for 13 generations.

Allele

Symbol: Atm^tm1Awb
Name: targeted mutation 1, Anthony Wynshaw Boris
MGI accession ID: MGI:1857132
Generation method: Targeted
Attributes: Null/Knockout; Humanized sequence
Marker symbol: Atm
Marker name: ataxia telangiectasia mutated
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.