Journal Article

Mice with a targeted disruption of the Fanconi anemia homolog <i>Fanca</i>

Ngan Ching Cheng, Henri J. van de Vrugt, Martin A. van der Valk, Anneke B. Oostra, Paul Krimpenfort, Yne de Vries, Hans Joenje, Anton Berns and Fré Arwert

in Human Molecular Genetics

Volume 9, issue 12, pages 1805-1811
Published in print July 2000 | ISSN: 0964-6906
Published online July 2000 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/9.12.1805
Mice with a targeted disruption of the Fanconi anemia homolog Fanca

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Fanconi anemia (FA) is a hereditary chromosomal instability syndrome with cancer predisposition. Bone marrow failure resulting in pancytopenia is the main cause of death of FA patients. Diagnosis of FA is based on their cellular hypersensitivity to DNA crosslinking agents and chromosome breakages. Somatic complementation experiments suggest the involvement of at least eight genes in FA. The gene for complementation group A (FANCA) is defective in the majority of FA patients. We show here that mice deficient of Fanca are viable and have no detectable developmental abnormalities. The hematological parameters showed a slightly decreased platelet count and a slightly increased erythrocyte mean cell volume in mice at young age, but this did not progress to anemia. Consistent with the clinical phenotype of FA patients, both male and female mice showed hypogonadism and impaired fertility. Furthermore, embryonic fibroblasts of the knock-out mice exhibited spontaneous chromosomal instability and were hyper-responsive to the clastogenic effect of the crosslinker mitomycin C.

Journal Article.  4249 words.  Illustrated.

Subjects: Genetics and Genomics

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