| Primary Identifier | MGI:96990 | Organism | mouse, laboratory |
| Chromosome | 10 | NCBI Gene Number | 17339 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables water channel activity. A structural constituent of eye lens. Acts upstream of or within lens development in camera-type eye; visual perception; and water transport. Located in plasma membrane. Is expressed in several structures, including eye; femur; and main olfactory bulb. Used to study cataract 15 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 15 multiple types. Orthologous to human MIP (major intrinsic protein of lens fiber). PHENOTYPE: Homozygotes have microphthalmia and lens opacity. Other defects may include degeneration of lens fiber cells, vacuolization of lens fibers and reduced gamma:alpha crystallin ratio. Heterozygotes have less severe forms of lens cataract and microphthalmia. [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
