Primary Identifier | MGI:2138334 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 227333 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP-dependent diacylglycerol kinase activity. Involved in diacylglycerol catabolic process; negative regulation of phospholipase C/protein kinase C signal transduction; and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be located in clathrin-coated pit; cytoplasmic vesicle; and cytosol. Predicted to be active in plasma membrane. Is expressed in several structures, including brain; immune system; musculature; reproductive system; and stomach. Used to study Lennox-Gastaut syndrome. Orthologous to human DGKD (diacylglycerol kinase delta). PHENOTYPE: Mice homozygous for a null allele are born with open eyelids and reduced body size, develop respiratory distress and die within 24 hrs of birth. Half of mice homozygous for a hypomorphic gene trap allele exhibit abnormal epileptic discharges and seizureswhile 9% of aging homozygotes develop tumors. [provided by MGI curators] |