| Primary Identifier | MGI:97493 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 18511 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 9.1.0) Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including face morphogenesis; odontogenesis; and regulation of odontogenesis. Predicted to be located in nucleolus and nucleoplasm. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; branchial arch; embryo mesenchyme; genitourinary system; and nose. Used to study tooth agenesis. Human ortholog(s) of this gene implicated in tooth agenesis. Orthologous to human PAX9 (paired box 9). PHENOTYPE: Homozygous inactivation of this gene results in abnormal tooth development and absent teeth and may lead to lack of pharyngeal pouch derivatives, athymia, craniofacial and limb anomalies, a small tympanic ring, various defects of the skeleton and musculature, and neonatal lethality. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
