| Primary Identifier | MGI:2136343 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 170788 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable calcium ion binding activity. Involved in post-embryonic retina morphogenesis in camera-type eye and visual perception. Acts upstream of with a positive effect on gene expression. Acts upstream of with a negative effect on protein localization. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; establishment of bipolar cell polarity involved in cell morphogenesis; and neurogenesis. Located in several cellular components, including adherens junction; microvillus; and photoreceptor outer segment. Part of subapical complex. Is active in apical part of cell. Is expressed in several structures, including alimentary system; central nervous system; epidermis; genitourinary system; and sensory organ. Used to study Leber congenital amaurosis 8 and retinitis pigmentosa 12. Human ortholog(s) of this gene implicated in pigmented paravenous chorioretinal atrophy and retinal disease (multiple). Orthologous to human CRB1 (crumbs cell polarity complex component 1). PHENOTYPE: Homozygotes for a null allele show focal retinal lesions, loss of adherens junctions between photoreceptors and Muller glia cells, and light-accelerated retinal degeneration. Homozygotes for a spontaneous allele show background-sensitive retinal spotting, photoreceptor dysplasia and 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
