| Primary Identifier | MGI:1921305 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 74055 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phosphatidylinositol phospholipase C activity and small GTPase binding activity. Predicted to be involved in several processes, including glycerolipid metabolic process; intracellular signal transduction; and positive regulation of lamellipodium assembly. Predicted to be located in cytosol; lamellipodium; and plasma membrane. Is expressed in several structures, including central nervous system; facial bone primordium; olfactory epithelium; retina; and thymus. Human ortholog(s) of this gene implicated in gastric adenocarcinoma; nephrotic syndrome; nephrotic syndrome type 2; and nephrotic syndrome type 3. Orthologous to human PLCE1 (phospholipase C epsilon 1). PHENOTYPE: Homozygous mutation of this gene results in a congenital semilunar valvulogenesis defect which causes regurgitation and stenosis, and decreased incidence of induced skin tumors. Another mutant exhibits decreased cardiac contraction and increased hypertrophy in response to chronic stress. [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
