| Primary Identifier | MGI:2135679 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 84653 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of DNA-templated transcription. Acts upstream of or within several processes, including negative regulation of transcription by RNA polymerase II; post-anal tail morphogenesis; and somitogenesis. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including central nervous system; descending aorta; small intestine; unsegmented mesenchyme; and urinary system. Used to study spondylocostal dysostosis. Human ortholog(s) of this gene implicated in spondylocostal dysostosis 4. Orthologous to human HES7 (hes family bHLH transcription factor 7). PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted somite formation leading to skeletal defects including short trunk and tail, reduced numbers of ribs, and deformed and fused vertebrae, and neonatal death. Some heterozygotes have tail kinks. [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
