| Primary Identifier | MGI:96567 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 23917 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables IMP dehydrogenase activity. Involved in 'de novo' XMP biosynthetic process and GMP biosynthetic process. Acts upstream of or within lymphocyte proliferation and purine nucleotide biosynthetic process. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in central nervous system and retina outer nuclear layer. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 11; retinitis pigmentosa; and retinitis pigmentosa 10. Orthologous to human IMPDH1 (inosine monophosphate dehydrogenase 1). PHENOTYPE: Mic homozygous for disruptions of this gene display abnormalities in T cell proliferation. Mice homozygous for an ENU-induced mutation exhibit reduced thickness of the outer nuclear layer and total retina thickness. [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
