Primary Identifier | MGI:98367 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 20678 |
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. Involved in cartilage condensation; chondrocyte differentiation; and positive regulation of chondrocyte differentiation. Acts upstream of or within several processes, including negative regulation of DNA-templated transcription; neurogenesis; and regulation of timing of neuron differentiation. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; genitourinary system; limb; nervous system; and sensory organ. Orthologous to human SOX5 (SRY-box transcription factor 5). PHENOTYPE: Homozygous null mice fail to breathe and die at birth exhibiting a narrow thoracic cage, irregularly mineralized sternum, cleft secondary palate, and delayed bone mineralization. Homozygotes for a transposon induced insertion die shortly after birth exhibiting cyanosis and respiratory distress. [provided by MGI curators] |