Primary Identifier | MGI:102934 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 20289 |
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; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and bHLH transcription factor binding activity. Contributes to E-box binding activity. Involved in several processes, including BMP signaling pathway; regulation of biosynthetic process; and skeletal system development. Acts upstream of or within skeletal muscle cell differentiation. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including embryo mesenchyme; genitourinary system; gut; limb; and musculoskeletal system. Orthologous to human SCX (scleraxis bHLH transcription factor). PHENOTYPE: Homozygotes for a targeted mutation develop normally up to E6.0-E6.5, but become arrested and fail to gastrulate and form mesodermal cells. In chimeric embryos, mutant cells are excluded from sclerotome-derived chondrogenic lineages but contribute to other cell types, including mesodermal tissues. [provided by MGI curators] |