Primary Identifier | MGI:2448607 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 236690 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within visual perception. Predicted to be located in extracellular region. Predicted to be active in extracellular matrix and extracellular space. Used to study congenital stationary night blindness 1A. Human ortholog(s) of this gene implicated in congenital stationary night blindness 1A and night blindness. Orthologous to human NYX (nyctalopin). PHENOTYPE: Mice homozygous for a spontaneous mutation fail to display the dark-adapted electroretinographic b-wave, and exhibit abnormal rod and cone electrophysiology, and absent visual evoked potential. [provided by MGI curators] |