Primary Identifier | MGI:96204 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 15432 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable sequence-specific double-stranded DNA binding activity. Acts upstream of or within embryonic digit morphogenesis; pattern specification process; and skeletal system development. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; genitourinary system; limb; and limb bud. Human ortholog(s) of this gene implicated in clubfoot. Orthologous to human HOXD12 (homeobox D12). PHENOTYPE: Homozygotes for targeted null mutations exhibit minor forelimb defects affecting carpals, metacarpals, and phalanges, and alterations of smooth muscle layers of the rectum resulting in malformation of the internal anal sphincter. [provided by MGI curators] |