| Primary Identifier | MGI:1914280 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 67030 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables ubiquitin protein ligase activity. Acts upstream of or within gamete generation; regulation of cell population proliferation; and single fertilization. Located in nuclear envelope. Is expressed in several structures, including early embryo; gonad; heart; lung; and telencephalon ventricular layer. Used to study 46 XX gonadal dysgenesis. Human ortholog(s) of this gene implicated in Fanconi anemia complementation group L. Orthologous to human FANCL (FA complementation group L). PHENOTYPE: Homozygosity for mutations that inactivate the allele results in male and female infertility due to a defects in primordial germ cell proliferation. Homozygosity is embryonic lethal on some backgrounds. Homozygosity for a Fanconi anemia associated deletion affects DNA damage repair and hematopoietic stem and progenitor cell differentiation. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
