| Primary Identifier | MGI:97848 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 19373 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including protein homodimerization activity; ubiquitin protein ligase activity; and zinc ion binding activity. Involved in several processes, including V(D)J recombination; lymphocyte differentiation; and protein autoubiquitination. Acts upstream of or within several processes, including negative regulation of cysteine-type endopeptidase activity; negative regulation of thymocyte apoptotic process; and thymus development. Located in nucleus. Is expressed in several structures, including early conceptus; gut; hemolymphoid system; mesenchyme derived from splanchnopleure; and metanephros. Human ortholog(s) of this gene implicated in Omenn syndrome; combined cellular and humoral immune defects with granulomas; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Orthologous to human RAG1 (recombination activating 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit arrested development of T and B cell maturation at the CD4-8- thymocyte or B220+/CD43+pro-B cell stage due to inability to undergo V(D)J recombination. [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
