| Primary Identifier | MGI:96624 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 16440 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity and phosphatidylinositol binding activity. Acts upstream of or within several processes, including long-term synaptic potentiation; memory; and sensory perception of taste. Located in cytoplasmic side of endoplasmic reticulum membrane; nucleolus; and nucleoplasm. Is expressed in several structures, including jaw; liver; sensory organ; skeleton; and spleen. Used to study autism spectrum disorder. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease and type 1 diabetes mellitus. Orthologous to human ITPR3 (inositol 1,4,5-trisphosphate receptor type 3). PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and exhibit no apparent abnormalities in pancreatic and salivary secretion. However, one mutation in this gene results in alternating abnormal hair loss and normal hair growth throughout the life of the mouse and low sweet preference. [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
