Primary Identifier | MGI:1277163 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 22326 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding activity; and chromatin DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including negative regulation of neuroblast proliferation; nervous system development; and skeletal muscle cell differentiation. Located in nucleus. Is expressed in several structures, including embryo ectoderm; gonad; nervous system; oral epithelium; and sensory organ. Human ortholog(s) of this gene implicated in syndromic microphthalmia 11. Orthologous to human VAX1 (ventral anterior homeobox 1). PHENOTYPE: Homozygous null mutants exhibit cleft palate and most die at birth. A few survive to 2 weeks of age. Mutants display defects in axon guidance, coloboma, dysgenesis of the optic nerve, defects of basal telencephalon, and holoprosencephaly. [provided by MGI curators] |