| Primary Identifier | MGI:2385958 | Organism | mouse, laboratory |
| Chromosome | 9 | NCBI Gene Number | 235312 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Acts upstream of or within inner ear development and protein secretion. Located in several cellular components, including apical plasma membrane; bicellular tight junction; and lateral plasma membrane. Part of protein-containing complex. Is expressed in several structures, including brain; eye; genitourinary system; gut gland; and respiratory system. Used to study late-onset retinal degeneration. Human ortholog(s) of this gene implicated in late-onset retinal degeneration. Orthologous to human C1QTNF5 (C1q and TNF related 5). PHENOTYPE: Heterozygotes for a knock-in mutation show features of late-onset retinal degeneration, whereas hetero- or homozygotes for the same knock-in generated by a different group lack retinal defects. Homozygous null mice exhibit reduced hepatic steatosis and improved insulin action on a high-fat diet. [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
