| Primary Identifier | MGI:95729 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 14634 |
| 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; chromatin binding activity; and sequence-specific DNA binding activity. Involved in several processes, including negative thymic T cell selection; regulation of alpha-beta T cell differentiation; and thymocyte apoptotic process. Acts upstream of or within several processes, including nervous system development; positive regulation of cell differentiation; and skeletal system morphogenesis. Located in axoneme and nuclear speck. Part of transcription repressor complex. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; genitourinary system; and sensory organ. Used to study Greig cephalopolysyndactyly syndrome and Pallister-Hall syndrome. Human ortholog(s) of this gene implicated in Pallister-Hall syndrome; anodontia; polydactyly (multiple); and synostosis (multiple). Orthologous to human GLI3 (GLI family zinc finger 3). PHENOTYPE: Homozygous mutants die perinatally with gross polydactyly, multiple craniofacial defects, and frequently, exencephaly. Heterozygotes exhibit enlarged interfrontal bone and extra preaxial digits. [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
