Primary Identifier | MGI:95388 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 13797 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in stereocilium bundle organization. Acts upstream of or within several processes, including anterior/posterior pattern specification; nervous system development; and ureter morphogenesis. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; future brain; genitourinary system; jaw; and nose. Human ortholog(s) of this gene implicated in colorectal cancer and stomach cancer. Orthologous to human EMX2 (empty spiracles homeobox 2). PHENOTYPE: Homozygous disruption of this gene causes neonatal death, impaired urogenital development and malformation of several forebrain regions. Heterozygotes for a null allele show middle and inner ear defects. Homozygotes for an ENU-induced allele die neonatally with middle ear defects and small kidneys. [provided by MGI curators] |