Primary Identifier | MGI:103220 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 17285 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; HMG box domain binding activity; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II and sclerotome development. Acts upstream of or within somite specification. Located in cytoplasm and nucleus. Is expressed in several structures, including embryo mesenchyme; genitourinary system; heart; limb; and musculoskeletal system. Human ortholog(s) of this gene implicated in Klippel-Feil syndrome 2. Orthologous to human MEOX1 (mesenchyme homeobox 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit hemi-vertebrae, and rib, vertebral, and cranial-vertebral fusions, but are viable and fertile. [provided by MGI curators] |