| Primary Identifier | MGI:2684894 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 195727 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within cell differentiation and lens development in camera-type eye. Predicted to be located in Golgi apparatus; cell junction; and nuclear body. Is expressed in several structures, including alimentary system; brain; epithelium; eye; and skin. Used to study Nance-Horan syndrome. Human ortholog(s) of this gene implicated in Nance-Horan syndrome and cataract 40. Orthologous to human NHS (NHS actin remodeling regulator). PHENOTYPE: Heterozygous females exhibit variable and patchy lens opacity. Homozygous females and hemizygous males exhibit complete lens opacity associated with progressive degeneration of primary fibers beginning around embryonic day 15. [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
