{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:49:13Z","timestamp":1791298153546,"version":"4.1.0"},"reference-count":65,"publisher":"Cold Spring Harbor Laboratory","issue":"16","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Dev."],"published-print":{"date-parts":[[2003,8,15]]},"abstract":"<jats:p>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<jats:italic>Fancd2<\/jats:italic>were created. Similar to human FA patients and other FA mouse models,<jats:italic>Fancd2<\/jats:italic>mutant mice exhibited cellular sensitivity to DNA interstrand cross-links and germ cell loss. In addition, chromosome mispairing was seen in male meiosis. However,<jats:italic>Fancd2<\/jats:italic>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<jats:italic>Brca2\/Fancd1<\/jats:italic>hypomorphic mutations. These additional phenotypes were not caused by defects in the ATM-mediated S-phase checkpoint, which was intact in primary<jats:italic>Fancd2<\/jats:italic>mutant fibroblasts. The phenotypic overlap between<jats:italic>Fancd2<\/jats:italic>-null and<jats:italic>Brca2\/Fancd1<\/jats:italic>hypomorphic mice is consistent with a common function for both proteins in the same pathway, regulating genomic stability.<\/jats:p>","DOI":"10.1101\/gad.1103403","type":"journal-article","created":{"date-parts":[[2003,8,5]],"date-time":"2003-08-05T00:29:58Z","timestamp":1060043398000},"page":"2021-2035","source":"Crossref","is-referenced-by-count":243,"title":["Epithelial cancer in Fanconi anemia complementation group D2 (<i>Fancd2<\/i>) knockout mice"],"prefix":"10.1101","volume":"17","author":[{"given":"Scott","family":"Houghtaling","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Timmers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meenakshi","family":"Noll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milton J.","family":"Finegold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen N.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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