| Primary Identifier | MGI:1923032 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 75782 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within intraciliary transport and photoreceptor cell maintenance. Located in axoneme; ciliary basal body; and photoreceptor connecting cilium. Is expressed in several structures, including nervous system; reproductive system; sensory organ; surface ectoderm; and thymus. Used to study Leber congenital amaurosis 5. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 5. Orthologous to human LCA5 (lebercilin LCA5). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit retinal patches of depigmentation, lack rod and cone ERG responses to light stimuli, and show loss of ciliary intraflagellar transport function in photoreceptors leading to failure of outer segment formation and photoreceptor 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
