Primary Identifier | MGI:96202 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 15430 |
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 transcription regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including limb morphogenesis; neuron differentiation; and regionalization. Predicted to be located in cytoplasmic ribonucleoprotein granule; cytosol; and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and limb bud. Human ortholog(s) of this gene implicated in congenital vertical talus. Orthologous to human HOXD10 (homeobox D10). PHENOTYPE: Homozygotes for a targeted null mutation exhibit an abnormal gait associated with defects in sacral vertebrae (including homeotic transformations), hindlimb bones, and muscle innervation. These defects are sometimes seen in heterozygotes as well. [provided by MGI curators] |