Primary Identifier | MGI:97712 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 18933 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; HMG box domain binding activity; and RNA polymerase II general transcription initiation factor activity. Involved in negative regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic morphogenesis; neuronal stem cell population maintenance; and positive regulation of cell population proliferation. Located in nucleus. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart and pericardium; and sensory organ. Human ortholog(s) of this gene implicated in agnathia-otocephaly complex. Orthologous to human PRRX1 (paired related homeobox 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit skeletal defects affecting mandible, limbs, and vertebrae, vascular abnormalities, and neonatal lethality. [provided by MGI curators] |