Primary Identifier | MGI:96174 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 15399 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in embryonic skeletal system development; muscle structure development; and pharyngeal system development. Acts upstream of or within several processes, including regionalization; regulation of transcription by RNA polymerase II; and rhombomere development. Located in nucleus. Is expressed in several structures, including alimentary system; branchial arch; central nervous system; genitourinary system; and sensory organ. Orthologous to human HOXA2 (homeobox A2). PHENOTYPE: Mutant homozygotes lack skeletal elements normally derived from the second branchial arch and show duplication of elements derived from the first branchial arch, such as ossification centers of the middle ear. Mutants die perinatally with cleft palate. [provided by MGI curators] |