Primary Identifier | MGI:1096325 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 17293 |
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 and RNA polymerase II cis-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 mesodermal cell migration; signal transduction involved in regulation of gene expression; and somite rostral/caudal axis specification. Located in nucleus. Is expressed in several structures, including central nervous system; ear; embryo mesoderm; genitourinary system; and paraxial mesenchyme. Human ortholog(s) of this gene implicated in spondylocostal dysostosis 2. Orthologous to human MESP2 (mesoderm posterior bHLH transcription factor 2). PHENOTYPE: Homozygotes for a targeted null mutation exhibit absence of segmented somites, fused vertebral columns and dorsal root ganglia, and impaired sclerotomal polarity. Mutants die shortly after birth. [provided by MGI curators] |