Primary Identifier | MGI:101894 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 18994 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cochlea morphogenesis and negative regulation of mesenchymal cell apoptotic process. Acts upstream of or within forebrain neuron differentiation; inner ear development; and sensory perception of sound. Predicted to be located in nucleoplasm. Is expressed in several structures, including brain; cranium; ear; embryo ectoderm; and foregut-midgut junction. Human ortholog(s) of this gene implicated in X-linked deafness 2. Orthologous to human POU3F4 (POU class 3 homeobox 4). PHENOTYPE: Homozygotes for spontaneous, radiation-induced and targeted null mutations exhibit developmental malformations of the inner ear resulting in head-shaking and hearing loss. [provided by MGI curators] |