Primary Identifier | MGI:2384790 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 208836 |
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. Predicted to be involved in DNA repair. Predicted to act upstream of or within positive regulation of protein ubiquitination. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of DNA repair complex and Fanconi anaemia nuclear complex. Human ortholog(s) of this gene implicated in Fanconi anemia; Fanconi anemia complementation group I; and female breast cancer. Orthologous to human FANCI (FA complementation group I). PHENOTYPE: Mice homozygous for a null allele exhibit male and female infertility associated with male germ cell apoptosis and increased accumulation of H3K9me3 on sex chromosomes. Mice homozygous for a gene trapped allele exhibit infertility, absent mature gametes, occasional fused digits, malocclusion, abnormal craniafacial morphology, increased cellular sensitivity to DNA damaging agents, microphthalmia, reduced body size, and inccompelte embryonic lethality. [provided by MGI curators] |