Primary Identifier | MGI:2389465 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 245572 |
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 negative 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 1st branchial arch mesenchyme; alimentary system; face; nose; and vibrissa follicle. Used to study X-linked cleft palate with or without ankyloglossia. Human ortholog(s) of this gene implicated in Abruzzo-Erickson syndrome; X-linked cleft palate with or without ankyloglossia; and cleft palate. Orthologous to human TBX22 (T-box transcription factor 22). PHENOTYPE: Half of homozygous female and hemizygous male null mice die neonatally due to breathing or feeding deficits, and show reduced bone formation in the posterior hard palate leading to submucous cleft palate, ankyloglossia, persistent oro-nasal membranes andoccasional overt clefts and choanal atresia. [provided by MGI curators] |