Primary Identifier | MGI:1890816 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 114889 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable transcription cis-regulatory region binding activity. Acts upstream of or within neuron maturation; retinal bipolar neuron differentiation; and visual perception. Located in nucleus. Is expressed in several structures, including 1st branchial arch; eye; genitourinary system; hemolymphoid system; and lung. Human ortholog(s) of this gene implicated in corneal dystrophy; keratoconus; and posterior polymorphous corneal dystrophy 1. Orthologous to human VSX1 (visual system homeobox 1). PHENOTYPE: Homozygous null mutation of this locus impairs cone bipolar cell differentiation and affects retinal electrophysiology. [provided by MGI curators] |