Primary Identifier | MGI:1923615 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 76365 |
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 repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and protein homodimerization activity. Involved in negative regulation of canonical Wnt signaling pathway; negative regulation of transcription by RNA polymerase II; and neural plate anterior/posterior regionalization. Acts upstream of or within several processes, including anterior/posterior pattern specification; embryonic morphogenesis; and positive regulation of cell population proliferation. Located in nucleus. Part of RNA polymerase II transcription repressor complex. Is expressed in several structures, including body cavity or lining; cardiovascular system; embryo mesenchyme; genitourinary system; and inner ear. Human ortholog(s) of this gene implicated in CAKUT2. Orthologous to human TBX18 (T-box transcription factor 18). PHENOTYPE: Homozygous null mice fail to maintain anterior-posterior polarity of the lateral sclerotome and display neonatal lethality and abnormal vertebral, rib and spinal nerve morphology. Mice homozygous for another targeted allele exhibit neonatal lethality, abnormal skeleton and abnormal coronary vessels. [provided by MGI curators] |