| Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. | |
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MedLine Citation:
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PMID: 8917548 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We have generated a mouse model for ataxia-telangiectasia by using gene targeting to generate mice that do not express the Atm protein. Atm-deficient mice are retarded in growth, do not produce mature sperm, and exhibit severe defects in T cell maturation while going on to develop thymomas. Atm-deficient fibroblasts grow poorly in culture and display a high level of double-stranded chromosome breaks. Atm-deficient thymocytes undergo spontaneous apoptosis in vitro significantly more than controls. Atm-deficient mice then exhibit many of the same symptoms found in ataxia-telangiectasia patients and in cells derived from them. Furthermore, we demonstrate that the Atm protein exists as two discrete molecular species, and that loss of one or of both of these can lead to the development of the disease. |
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Authors:
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A Elson; Y Wang; C J Daugherty; C C Morton; F Zhou; J Campos-Torres; P Leder |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Proceedings of the National Academy of Sciences of the United States of America Volume: 93 ISSN: 0027-8424 ISO Abbreviation: Proc. Natl. Acad. Sci. U.S.A. Publication Date: 1996 Nov |
Date Detail:
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Created Date: 1996-12-30 Completed Date: 1996-12-30 Revised Date: 2013-04-17 |
Medline Journal Info:
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Nlm Unique ID: 7505876 Medline TA: Proc Natl Acad Sci U S A Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 13084-9 Citation Subset: IM |
Affiliation:
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Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Ataxia Telangiectasia / genetics* Cell Cycle Proteins Cells, Cultured Chimera Crosses, Genetic DNA-Binding Proteins Embryo, Mammalian Exons Female Fibroblasts Genotype Heterozygote Detection Homozygote Humans Karyotyping Leucine Zippers Male Mice Mice, Inbred C57BL Mice, Knockout Protein Biosynthesis Protein-Serine-Threonine Kinases* Proteins / genetics* Seminiferous Tubules / pathology Spleen / immunology T-Lymphocytes / immunology Thymus Gland / immunology Tumor Suppressor Proteins |
| Chemical | |
Reg. No./Substance:
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0/Cell Cycle Proteins; 0/DNA-Binding Proteins; 0/Proteins; 0/Tumor Suppressor Proteins; EC 2.7.11.1/Protein-Serine-Threonine Kinases; EC 2.7.11.1/ataxia telangiectasia mutated protein |
| Comments/Corrections | |
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