Primary Identifier | MGI:2150020 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 114714 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables crossover junction DNA endonuclease activity. Involved in telomere maintenance via recombination. Acts upstream of or within female meiosis sister chromatid cohesion; meiosis I; and spermatogenesis. Located in nucleus. Is expressed in several structures, including genitourinary system; heart; liver; lung; and spleen. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group O and hereditary breast ovarian cancer syndrome. Orthologous to human RAD51C (RAD51 paralog C). PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. Mice carrying a null and a hypomorphic allele have partial penetrance of male and female infertility due to defects in meiosis. [provided by MGI curators] |