Primary Identifier | MGI:1346317 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 23958 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity. Acts upstream of or within several processes, including eye development; negative regulation of cell population proliferation; and regulation of transcription by RNA polymerase II. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including 1st branchial arch maxillary component; early conceptus; eye; intestine; and oocyte. Used to study enhanced S-cone syndrome. Human ortholog(s) of this gene implicated in enhanced S-cone syndrome and retinitis pigmentosa 37. Orthologous to human NR2E3 (nuclear receptor subfamily 2 group E member 3). PHENOTYPE: Mice homozygous for a null mutation exhibit rossettes and a reduced number of nuclei in the retinal outer nuclear layer. [provided by MGI curators] |