Primary Identifier | MGI:97253 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 17878 |
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. Acts upstream of or within several processes, including regulation of DNA-templated transcription; skeletal muscle cell differentiation; and somitogenesis. Predicted to be located in cytosol; mitotic spindle; and nucleoplasm. Is expressed in several structures, including esophagus; ganglia; limb; paraxial mesenchyme; and skeletal musculature. Used to study alveolar rhabdomyosarcoma. Human ortholog(s) of this gene implicated in congenital structural myopathy. Orthologous to human MYF6 (myogenic factor 6). PHENOTYPE: Homozygotes for targeted mutations exhibit variable rib abnormalities, abnormal intercostal muscle morphology, reduced expression of Myf5, and postnatal mortality proportional to the severity of the rib defect. [provided by MGI curators] |