Disease model: Fanconi anemia.
Fanconi anemia (FA) is a chromosomal instability syndrome characterized by the presence of pancytopenia, congenital malformations and cancer predisposition. Six genes associated with this disorder have been cloned, and mice with targeted disruptions of several of the FA genes have been generated. These mouse models display the characteristic FA feature of cellular hypersensitivity to DNA cross-linking agents. Although they do not develop hematological or developmental abnormalities spontaneously, they mimic FA patients in their reduced fertility. Studies using these animal models provide valuable insights into the involvement of apoptotic pathways in FA, and help characterize the defects in FA hematopoietic cells. In addition, mouse models are also useful for testing treatments for FA.
Wong
Jasmine C Y
JC
Program in Genetics and Genomics Biology, Research Institute, Dept of Molecular and Medical Genetics, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, Ontario, Canada.
Buchwald
Manuel
M
D000818:Animals; D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D004195:Disease Models, Animal; D005199:Fanconi Anemia / Q000188:drug therapy / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins; D006410:Hematopoiesis / Q000235:genetics; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009687:Nuclear Proteins; D010641:Phenotype; D011506:Proteins / Q000235:genetics
D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; D011506:Proteins