Primary Identifier | MGI:2448480 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 211651 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA polymerase binding activity. Acts upstream of or within several processes, including homologous chromosome pairing at meiosis; neuronal stem cell population maintenance; and regulation of regulatory T cell differentiation. Located in condensed chromosome and nucleus. Is expressed in cerebral cortex subventricular zone; cerebral cortex ventricular layer; and primordial germ cell of gonad. Used to study Fanconi anemia complementation group D2. Human ortholog(s) of this gene implicated in Fanconi anemia; Fanconi anemia complementation group D2; and breast cancer. Orthologous to human FANCD2 (FA complementation group D2). PHENOTYPE: Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia. [provided by MGI curators] |