| Primary Identifier | MGI:98358 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 20665 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; nervous system development; and neural crest cell migration. Acts upstream of or within several processes, including lacrimal gland development; melanocyte differentiation; and positive regulation of neuroblast proliferation. Located in mitochondrial outer membrane and nucleus. Is expressed in several structures, including alimentary system; genitourinary system; inner ear; mesenchyme derived from neural crest; and nervous system. Used to study Kallmann syndrome; PCWH syndrome; and Waardenburg syndrome type 4C. Human ortholog(s) of this gene implicated in Kallmann syndrome; PCWH syndrome; Waardenburg syndrome type 2E; and Waardenburg syndrome type 4C. Orthologous to human SOX10 (SRY-box transcription factor 10). PHENOTYPE: Homozygotes for null mutations lack peripheral glial cells, melanocytes, and autonomic and enteric neurons, and die neonatally or sooner. Heterozygotes exhibit white spotting and megacolon. [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
