Primary Identifier | MGI:1346018 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 24113 |
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 forebrain development and negative regulation of transcription by RNA polymerase II. Acts upstream of or within axonogenesis; dorsal/ventral axis specification; and eye development. Located in cytoplasm and nucleus. Is expressed in several structures, including eye; limb; liver; lung; and nervous system. Orthologous to human VAX2 (ventral anterior homeobox 2). PHENOTYPE: Homozygous null mutants for one allele show incomplete closure of optic fissure leading to coloboma, the frequency of which is strongly influenced by genetic background. Homozygous null mutants for 2 different alleles have abnormal projections of ventralretinal ganglion cells. [provided by MGI curators] |