| Primary Identifier | MGI:98872 | Organism | mouse, laboratory |
| Chromosome | 12 | NCBI Gene Number | 22160 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including E-box binding activity; histone deacetylase binding activity; and protein homodimerization activity. Involved in several processes, including heart valve development; regulation of transcription by RNA polymerase II; and skeletal system morphogenesis. Acts upstream of or within several processes, including chordate embryonic development; limb morphogenesis; and negative regulation of cytokine production. Located in nucleus. Is expressed in several structures, including alimentary system; central nervous system; embryo mesenchyme; extraembryonic component; and genitourinary system. Used to study Saethre-Chotzen syndrome. Human ortholog(s) of this gene implicated in Sweeney-Cox syndrome; breast cancer (multiple); and synostosis (multiple). Orthologous to human TWIST1 (twist family bHLH transcription factor 1). PHENOTYPE: Homozygous embyros have neural tube defects and die around E11. Heterozygous mutants are viable and exhibit features of human Saethre-Chotzen syndrome, including hindlimb polydactyly, craniofacial defects, long bone abnormalities, an abnormal gait and a small size. [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
