Primary Identifier | MGI:95728 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 14633 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA binding activity; DNA-binding transcription activator activity, RNA polymerase II-specific; and promoter-specific chromatin binding activity. Involved in gene expression and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic morphogenesis; nervous system development; and tube morphogenesis. Located in several cellular components, including axoneme; ciliary tip; and nuclear speck. Is expressed in several structures, including central nervous system; embryo mesenchyme; eye; genitourinary system; and jaw. Human ortholog(s) of this gene implicated in Culler-Jones syndrome; holoprosencephaly 9; and spina bifida. Orthologous to human GLI2 (GLI family zinc finger 2). PHENOTYPE: Homozygotes for targeted null mutations exhibit skeletal malformations, absence of floorplate and foregut, lung and anorectal defects, and altered commissural neuron guidance. Most mutants die before embryonic day 18.5. [provided by MGI curators] |