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 8.0.0) Predicted to enable several functions, including heat shock protein binding activity; histone deacetylase activity; and histone decrotonylase activity. Predicted to be involved in several processes, including cellular response to forskolin; cellular response to trichostatin A; and regulation of macromolecule metabolic process. Predicted to be located in cytoplasm and nucleus. Predicted to be part of histone deacetylase complex. 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] |