| 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 8.0.0) 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. 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
