Primary Identifier | MGI:98495 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 21386 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in several processes, including atrioventricular canal morphogenesis; embryonic morphogenesis; and regulation of protein complex stability. Acts upstream of or within several processes, including circulatory system development; mammary gland morphogenesis; and regulation of DNA-templated transcription. Located in nucleus. Part of transcription regulator complex. Is active in cilium. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; limb; and sensory organ. Used to study ulnar-mammary syndrome. Human ortholog(s) of this gene implicated in ulnar-mammary syndrome. Orthologous to human TBX3 (T-box transcription factor 3). PHENOTYPE: Homozygous null mice die are embryonic lethal exhibiting defects in the yolk sac and limb defects. Female embryos show impaired mammary bud induction. Mice homozygous for hypomorphic alleles exhibit varying degrees of prenatal lethality and premature death, heart defects and limb abnormalities. [provided by MGI curators] |