| Primary Identifier | MGI:2385198 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 230484 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cysteine-type deubiquitinase activity. Acts upstream of or within skeletal system development. Predicted to be located in nucleoplasm. Predicted to be active in cytosol and nucleus. Is expressed in cerebellum; femur; retina inner nuclear layer; and retina outer nuclear layer. Used to study Fanconi anemia. Orthologous to human USP1 (ubiquitin specific peptidase 1). PHENOTYPE: Homozygous null mice have a high rate of postnatal lethality related to cyanosis. Male survivors are infertile while female survivors have reduced fertility. Both sexes have reduced number of gametes, are sensitive to ionizing radiation, and have decreased numbers of bone marrow cells. [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
