| Primary Identifier | MGI:109571 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 22157 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable actin filament binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in dendrite development; eye photoreceptor cell development; and photoreceptor cell maintenance. Acts upstream of or within phagocytosis, recognition; protein localization to photoreceptor outer segment; and retina development in camera-type eye. Located in several cellular components, including axon terminus; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in renal vasculature. Used to study retinitis pigmentosa 14. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 15; retinitis pigmentosa; and retinitis pigmentosa 14. Orthologous to human TULP1 (TUB like protein 1). PHENOTYPE: Homozygous mutant mice exhibit retinal 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
