| Primary Identifier | MGI:1328317 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 22040 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA binding activity; WW domain binding activity; and magnesium ion binding activity. Involved in DNA metabolic process. Acts upstream of or within several processes, including DNA metabolic process; circulatory system development; and regulation of biosynthetic process. Located in cytosol; endoplasmic reticulum; and nuclear replication fork. Part of oligosaccharyltransferase complex and protein-DNA complex. Is expressed in lens. Used to study Aicardi-Goutieres syndrome and cutaneous lupus erythematosus. Human ortholog(s) of this gene implicated in Aicardi-Goutieres syndrome; Chilblain lupus; retinal vasculopathy with cerebral leukodystrophy; and systemic lupus erythematosus. Orthologous to human TREX1 (three prime repair exonuclease 1). PHENOTYPE: Nullizygous mice display premature death, cardiomyopathy, myocarditis, atrial thrombosis, and altered spleen morphology. Homozygotes for the D18N allele develop lupus-like disease with systemic inflammation, lymphoid hyperplasia, vasculitis, production of autoantibodies to dsDNA, and renal disease. [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
