Primary Identifier | MGI:1261436 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 109575 |
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 factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in cell fate specification and regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; ear; genitourinary system; head surface ectoderm; and lung mesenchyme. Orthologous to human TBX10 (T-box transcription factor 10). PHENOTYPE: Mice homozygous for a gain of function mutation die perinatally with cleft lip and cleft palate; heterozygotes show penetrance and strain effects - they generally circle and head-toss, but are not deaf, lack the macula of utriculus and show defects of the labyrinths in the vestibular region. [provided by MGI curators] |