| Primary Identifier | MGI:97525 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 18587 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 3',5'-cyclic-AMP phosphodiesterase activity and 3',5'-cyclic-GMP phosphodiesterase activity. Involved in entrainment of circadian clock by photoperiod. Acts upstream of or within detection of light stimulus and retina development in camera-type eye. Located in photoreceptor outer segment. Is expressed in esophagus; eye; and male reproductive gland or organ. Used to study congenital stationary night blindness autosomal dominant 2; retinal degeneration; retinitis pigmentosa; and retinitis pigmentosa 40. Human ortholog(s) of this gene implicated in congenital stationary night blindness autosomal dominant 2 and retinitis pigmentosa 40. Orthologous to human PDE6B (phosphodiesterase 6B). PHENOTYPE: Homozygotes for the rd1 mutation have severe retinal degeneration and vision loss. Rod cells are lost by 35 days of age; cone cells degenerate slower and some light sensitivity persists. Other allelic mutations produce similar or milder phenotypes. [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
