Primary Identifier | MGI:1194883 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 12951 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including RNA polymerase II transcription regulatory region sequence-specific DNA binding activity; chromatin binding activity; and nuclear receptor binding activity. Involved in regulation of DNA-templated transcription. Acts upstream of or within positive regulation of transcription by RNA polymerase II and retina development in camera-type eye. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including face; liver; lung; nervous system; and retina. Used to study Leber congenital amaurosis 7 and cone-rod dystrophy 2. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 7 and cone-rod dystrophy 2. Orthologous to human CRX (cone-rod homeobox). PHENOTYPE: Homozygotes for a targeted null mutation exhibit a lack of photoreceptor outer segments and rod and cone activity, reduced expression of several photoreceptor- and pineal-specific genes, and altered circadian behavior. [provided by MGI curators] |