WormBase Tree Display for Disease_model_annotation: WBDOannot00001093
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| WBDOannot00001093 | Disease_term | DOID:0050709 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Variation | WBVar00089556 | |
| Asserted_gene | WBGene00001648 | ||
| Association_type | is_implicated_in | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| 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. The C. elegans goa-1 GF allele (n499) displayed flat waveform movement indicative of impaired locomotion; in contrast, the opposite phenotype is observed in LF mutantshyperactive movement consisting of exaggerated, compressed waveform, indicating that locomotor assays provide accurate, quantitative phenotypic readouts for genetic perturbations that clearly distinguish gao-1 GF and LF activity. compressed waveform | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 20 Jan 2022 00:00:00 |
