Primary Identifier | MGI:97169 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 17702 |
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 and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and osteoblast differentiation. Acts upstream of or within several processes, including embryonic limb morphogenesis; heart development; and skeletal system development. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; embryo ectoderm; embryo mesenchyme; genitourinary system; and sensory organ. Used to study craniosynostosis and parietal foramina. Human ortholog(s) of this gene implicated in craniosynostosis and parietal foramina. Orthologous to human MSX2 (msh homeobox 2). PHENOTYPE: Homozygotes for a targeted null mutation exhibit defective skull ossification with persistent calvarial foramen, alopecia, stubby and curly whiskers, seizures, and impaired development of teeth, cerebellum, and mammary gland. [provided by MGI curators] |