| Primary Identifier | MGI:1343460 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 14712 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables glycerone-phosphate O-acyltransferase activity. Acts upstream of or within several processes, including cell junction assembly; cerebellum morphogenesis; and ether lipid biosynthetic process. Located in peroxisome. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Used to study disease of mental health and rhizomelic chondrodysplasia punctata type 2. Human ortholog(s) of this gene implicated in rhizomelic chondrodysplasia punctata type 2. Orthologous to human GNPAT (glyceronephosphate O-acyltransferase). PHENOTYPE: Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived. [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
