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.

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.

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