Primary Identifier | MGI:97168 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 17701 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Contributes to transcription cis-regulatory region binding activity. Involved in several processes, including embryonic nail plate morphogenesis; face morphogenesis; and negative regulation of odontoblast differentiation. Acts upstream of or within several processes, including embryonic limb morphogenesis; regulation of gene expression; and skeletal system development. Located in nucleus. Part of transcription regulator complex. Is active in nuclear periphery. Is expressed in several structures, including alimentary system; embryo ectoderm; embryo mesenchyme; genitourinary system; and sensory organ. Used to study orofacial cleft and tooth agenesis. Human ortholog(s) of this gene implicated in cleft lip; cleft palate; orofacial cleft 5; tooth and nail syndrome; and tooth disease (multiple). Orthologous to human MSX1 (msh homeobox 1). PHENOTYPE: Mutants affect craniofacial neural crest-derived mesenchyme by controlling cell cycle progression. Homozygous null mutants die at birth with multiple craniofacial defects including cleft palate, reduced mandible and maxilla, and retarded tooth development. [provided by MGI curators] |