Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice.

Fanconi anemia (FA) is a genetic disorder characterized by hypersensitivity to DNA damage, bone marrow failure, congenital defects, and cancer. To further investigate the in vivo function of the FA pathway, mice with a targeted deletion in the distally acting FA gene Fancd2 were created. Similar to human FA patients and other FA mouse models, Fancd2 mutant mice exhibited cellular sensitivity to DNA interstrand cross-links and germ cell loss. In addition, chromosome mispairing was seen in male meiosis. However, Fancd2 mutant mice also displayed phenotypes not observed in other mice with disruptions of proximal FA genes. These include microphthalmia, perinatal lethality, and epithelial cancers, similar to mice with Brca2/Fancd1 hypomorphic mutations. These additional phenotypes were not caused by defects in the ATM-mediated S-phase checkpoint, which was intact in primary Fancd2 mutant fibroblasts. The phenotypic overlap between Fancd2-null and Brca2/Fancd1 hypomorphic mice is consistent with a common function for both proteins in the same pathway, regulating genomic stability.

Pubmed ID: 12893777


  • Houghtaling S
  • Timmers C
  • Noll M
  • Finegold MJ
  • Jones SN
  • Meyn MS
  • Grompe M


Genes & development

Publication Data

August 15, 2003

Associated Grants

  • Agency: NHLBI NIH HHS, Id: 1PO1HL48546

Mesh Terms

  • Animals
  • BRCA2 Protein
  • Cells, Cultured
  • DNA Repair
  • Dose-Response Relationship, Radiation
  • Fanconi Anemia
  • Fanconi Anemia Complementation Group D2 Protein
  • Female
  • Fibroblasts
  • Gene Deletion
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Neoplasms
  • Nuclear Proteins
  • Phenotype
  • Protein Isoforms
  • Ultraviolet Rays