Primary Identifier | MGI:1924832 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 77582 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables O-acyltransferase activity and lysophospholipid acyltransferase activity. Involved in phosphatidylinositol acyl-chain remodeling and regulation of triglyceride metabolic process. Acts upstream of or within layer formation in cerebral cortex; phosphatidylinositol metabolic process; and ventricular system development. Located in membrane. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and respiratory system. Used to study hydrocephalus. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 57. Orthologous to human MBOAT7 (membrane bound O-acyltransferase domain containing 7). PHENOTYPE: Mice homozygous for a targeted mutation exhibit hydrocephaly and most die between 1-3 months of age. Mice homozygous for a knock-out allele exhibit partial lethality with decreased body size, decreased forebrain size, delayed neuronal migrationand reduced neurite outgrowth. [provided by MGI curators] |