| Primary Identifier | MGI:1917565 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 70315 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable chromatin binding activity; heat shock protein binding activity; and histone modifying activity. Predicted to be involved in several processes, including cellular response to organic cyclic compound; negative regulation of osteoblast differentiation; and regulation of gene expression. Predicted to be located in cytoplasm. Predicted to be part of histone deacetylase complex. Predicted to be active in nucleus. Is expressed in several structures, including 2-cell stage embryo; brain; embryo ectoderm; foregut; and retina. Used to study Cornelia de Lange syndrome 5. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 5 and Wilson-Turner syndrome. Orthologous to human HDAC8 (histone deacetylase 8). PHENOTYPE: Mice hemizygous or homozygous for the null allele exhibit background sensitive defects in frontal and interparietal bone ossification. On a C57BL/6 background the phenotype is severe leading to death within 4-6 hours of birth from brain hemorrhaging. [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
