Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

GENE - TERM ANNOTATION REPORT

RGD ID: 10821
Species: Mus musculus
RGD Object: Gene
Symbol: Itpr1
Name: inositol 1,4,5-trisphosphate receptor 1
Acc ID: DOID:0050965
Term: spinocerebellar ataxia type 15
Definition: An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Itpr1 ISOITPR1 (Homo sapiens)6480683RGDDNA:deletions:multiple (human) 
Itpr1 ISOITPR1 (Homo sapiens)6480871RGDDNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human) 
Itpr1 ISOITPR1 (Homo sapiens)7240710OMIM  
Itpr1 ISOITPR1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:22986007
Itpr1 ISOITPR1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Spinocerebellar Ataxia Type 15 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16PMID:10664581 PMID:12824425 PMID:14981189 PMID:17932120 PMID:18579805 PMID:20669319 PMID:21681106 PMID:23315928 PMID:24091540 PMID:25326635 PMID:25741868 PMID:25794864 PMID:26467025 PMID:27062503 PMID:28492532 PMID:28659154 PMID:28826917 PMID:29925855 PMID:30301590 PMID:30371827 PMID:30842224 PMID:31632679 PMID:31785789 PMID:32695065 PMID:33163565 PMID:34008892 PMID:35743164 PMID:36233161 PMID:36585006
Go Back to source page   Continue to Ontology report