Atm-deficient mice: A paradigm of ataxia telangiectasia

Carrolee Barlow, Shinji Hirotsune, Richard Paylor, Marek Liyanage, Michael Eckhaus, Francis Collins, Yosef Shiloh, Jacqueline Crawley, Thomas Ried, Danilo Tagle, Anthony Wynshaw-Boris

Research output: Contribution to journalArticlepeer-review

1188 Scopus citations

Abstract

A murine model of ataxia telangiectasia was created by disrupting the Atm locus via gene targeting. Mice homozygous for the disrupted Atm allele displayed growth retardation, neurologic dysfunction, male and female infertility secondary to the absence of mature gametes, defects in T lymphocyte maturation, and extreme sensitivity to γ-irradiation. The majority of animals developed malignant thymic lymphomas between 2 and 4 months of age. Several chromosomal anomalies were detected in one of these tumors. Fibroblasts from these mice grew slowly and exhibited abnormal radiation-induced G1 checkpoint function. Atm-disrupted mice recapitulate the ataxia telangiectasia phenotype in humans, providing a mammalian model in which to study the pathophysiology of this pleiotropic disorder.

Original languageEnglish (US)
Pages (from-to)159-171
Number of pages13
JournalCell
Volume86
Issue number1
DOIs
StatePublished - Jul 12 1996
Externally publishedYes

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

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