Primary Identifier | MGI:2442415 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 244349 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables chromatin binding activity and histone H3K9 acetyltransferase activity. Acts upstream of or within several processes, including circulatory system development; face morphogenesis; and negative regulation of DNA-binding transcription factor activity. Located in nucleus. Is expressed in several structures, including central nervous system; early embryo; genitourinary system; and liver. Used to study DiGeorge syndrome. Human ortholog(s) of this gene implicated in Arboleda-Tham syndrome and acute myeloid leukemia. Orthologous to human KAT6A (lysine acetyltransferase 6A). PHENOTYPE: Homozygous null mice display perinatal lethality, cyanosis, decreased hematopoietic progenitor cell numbers, and severely impaired spleen and thymus development, but are not anemic. Heterozygotes display strain background dependent reductions in fertility. [provided by MGI curators] |