WormBase Tree Display for Disease_model_annotation: WBDOannot00001094
expand all nodes | collapse all nodes | view schema
| WBDOannot00001094 | Disease_term | DOID:0050709 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Variation | WBVar02157218 | |
| Asserted_gene | WBGene00001648 | ||
| Association_type | is_implicated_in | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Experimental_condition | Inducing_chemical | WBMol:00003650 | |
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00061915 | ||
| Disease_model_description | GNAO1 encephalopathy is a neurodevelopmental disorder with a spectrum of symptoms that include dystonic movements, seizures and developmental delay. C. elegans can be used as a model to test the functional effects of pathological variants in vivo. The CRISPR/Cas9 generated goa-1 (bgg46[R209C]) allele shows hyperactive locomotion, and dramatic aldicarb hypersensitivity. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 20 Jan 2022 00:00:00 |
