| Primary Identifier | MGI:105123 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 14919 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables guanylate cyclase activity. Involved in cGMP biosynthetic process. Located in photoreceptor outer segment membrane. Is expressed in dorsal root ganglion; retina outer nuclear layer; and spinal cord. Used to study Leber congenital amaurosis 1 and cone-rod dystrophy 6. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 1; choroidal sclerosis; cone-rod dystrophy 6; congenital stationary night blindness; and retinitis pigmentosa. Orthologous to human GUCY2D (guanylate cyclase 2D, retinal). PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal cone cell morphology, impaired cone and rod electrophysiology, and severe retinal cone cell degeneration. [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
