Primary Identifier | MGI:1341840 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 20476 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in eye development and regulation of transcription by RNA polymerase II. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo ectoderm; genitourinary system; and sensory organ. Human ortholog(s) of this gene implicated in optic disc anomalies with retinal and/or macular dystrophy. Orthologous to human SIX6 (SIX homeobox 6). PHENOTYPE: Mice homozygous for disruptions in this gene display retinal and pituitary gland hypoplasia, hypothalamic dysregulation, and reduced male and female fertility. [provided by MGI curators] |