Primary Identifier | MGI:98359 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 20666 |
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 cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including camera-type eye development; nervous system development; and regulation of gene expression. Acts upstream of or within skeletal muscle cell differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; limb; and sensory organ. Used to study Weissenbacher-Zweymuller syndrome. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 9. Orthologous to human SOX11 (SRY-box transcription factor 11). PHENOTYPE: Homozygous null mice display neonatal lethality with impaired ossification and impaired development of the heart, lung, spleen, stomach, skeleton and pancreas. Mice homozygous for a different knock-out allele exhibit abnormal nervous system development and complete neonatal lethality. [provided by MGI curators] |