Primary Identifier | MGI:96208 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 15436 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within anterior/posterior pattern specification; embryonic skeletal system morphogenesis; and stem cell differentiation. Predicted to be located in cell junction. Predicted to be active in nucleoplasm. Is expressed in several structures, including embryo ectoderm; embryo mesenchyme; genitourinary system; gut; and nervous system. Orthologous to human HOXD4 (homeobox D4). PHENOTYPE: Both homozygotes and heterozygotes for a targeted null mutation exhibit homeotic transformations of the second cervical vertebrae and malformed neural arches of C1 to C3 and of the basioccipital bone. Mutants show variable penetrance and expressivity. [provided by MGI curators] |