| Primary Identifier | MGI:1336189 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 20147 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol-3,4-bisphosphate binding activity and phospholipid binding activity. Acts upstream of or within retina layer formation. Located in several cellular components, including external side of plasma membrane; neuron to neuron synapse; and photoreceptor inner segment. Part of protein-containing complex. Is active in cell surface. Is expressed in eye. Used to study X-linked juvenile retinoschisis 1. Human ortholog(s) of this gene implicated in X-linked juvenile retinoschisis 1 and retinoschisis. Orthologous to human RS1 (retinoschisin 1). PHENOTYPE: Hemizygous males for a targeted null X-linked mutation exhibit disrupted organization of retinal cell layers, small cyst-like structures on the inner retina, and altered electroretinographs. [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
