| Primary Identifier | MGI:97613 | Organism | mouse, laboratory |
| Chromosome | 2 | NCBI Gene Number | 18795 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables lamin binding activity and phosphatidylinositol phospholipase C activity. Involved in several processes, including G protein-coupled receptor signaling pathway; positive regulation of cell cycle process; and regulation of macromolecule biosynthetic process. Located in cytoplasm and nuclear speck. Part of chromatin. Is active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic cytosol. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and respiratory system. Used to study Alzheimer's disease and schizophrenia. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 12 and myelodysplastic syndrome. Orthologous to human PLCB1 (phospholipase C beta 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo. [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
