Primary Identifier | MGI:108359 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 11695 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific; HMG box domain binding activity; and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic limb morphogenesis; embryonic skeletal system morphogenesis; and roof of mouth development. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; integumental system; and sensory organ. Used to study parietal foramina. Human ortholog(s) of this gene implicated in craniosynostosis; frontonasal dysplasia 2; gastrointestinal system cancer (multiple); lung cancer (multiple); and parietal foramina. Orthologous to human ALX4 (ALX homeobox 4). PHENOTYPE: Depending on genetic background mutant mice may show preaxial polydactyly and other skeletal alterations, transitory alopecia, ventral body wall defects and male sterility. Homozygous mice of one allele die prenatally. [provided by MGI curators] |