| Primary Identifier | MGI:104554 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 17342 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; E-box binding activity; and protein dimerization activity. Involved in positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including osteoclast differentiation; regulation of DNA-templated transcription; and regulation of osteoclast differentiation. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; integumental system; mesenchyme derived from neural crest; and sensory organ. Used to study Tietz syndrome; Waardenburg syndrome (multiple); ocular albinism with sensorineural deafness; osteosclerosis (multiple); and polycystic kidney disease. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome; Waardenburg syndrome type 2A; and familial melanoma. Orthologous to human MITF (melanocyte inducing transcription factor). PHENOTYPE: Mutations at this locus affect development of melanocytes, mast cells, osteoclasts and pigmented epithelium. Mutants variably display lack of pigment in coat and eye, microphthalmia, hearing loss, bone resorption anomalies, mast cell deficiency and 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
