Primary Identifier | MGI:98472 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 20997 |
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-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in cardiac muscle cell myoblast differentiation and regulation of DNA-templated transcription. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and embryonic morphogenesis. Located in chromatin; cytoplasm; and nucleus. Is expressed in several structures, including egg cylinder; embryo mesenchyme; future spinal cord; genitourinary system; and mesoderm. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human TBXT (T-box transcription factor T). PHENOTYPE: Homozygous mice die during embryonic development. Heterozygous mice have skeletal abnormalities. On specific genetic backgrounds, some alleles cause partial or complete sex-reversal of chromosomally XY mice. [provided by MGI curators] |