TY - JOUR
T1 - Atm-deficient mice
T2 - A paradigm of ataxia telangiectasia
AU - Barlow, Carrolee
AU - Hirotsune, Shinji
AU - Paylor, Richard
AU - Liyanage, Marek
AU - Eckhaus, Michael
AU - Collins, Francis
AU - Shiloh, Yosef
AU - Crawley, Jacqueline N.
AU - Ried, Thomas
AU - Tagle, Danilo
AU - Wynshaw-Boris, Anthony
N1 - Funding Information:
The authors are grateful to Lisa Garrett, Theresa Hernandez, David Bernard, and Cheral Canna for crucial technical support in making the disrupted mice; Mona Schroeder, Lisa Pike-Buchanan, and Denise Larson for excellent technical assistance; Stacie Anderson and Pam Schwartzberg for advice and assistance with flow cytometry; M. A. Ferguson-Smith for providing mouse chromosome–specific painting probes; Allen Coleman for help with mouse chromosome identification; and Bart Williams for comments on the manuscript. C. B. is a Clinical Endocrine Fellow supported by the National Institute of Diabetes, Digestive, and Kidney Diseases. In particular, the advice and interest of Brad Margus and The AT Children's Project were invaluable.
PY - 1996/7/12
Y1 - 1996/7/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=15844426692&partnerID=8YFLogxK
U2 - 10.1016/S0092-8674(00)80086-0
DO - 10.1016/S0092-8674(00)80086-0
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AN - SCOPUS:15844426692
SN - 0092-8674
VL - 86
SP - 159
EP - 171
JO - Cell
JF - Cell
IS - 1
ER -
