WormBase Tree Display for Disease_model_annotation: WBDOannot00001308
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| WBDOannot00001308 | Disease_term | DOID:4195 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Genotype | WBGenotype00000142 | |
| Association_type | is_model_of | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00062228 | ||
| Disease_model_description | The engineered C. elegans mdh-2 (cer10[His56Cys]) allele is equivalent to a human MDH2 Arg52Cys patient mutation and serves as a model for familial hyperglycemia; these mutant worms showed a striking increase in baseline DAF-28 secretion, along with a blunted ability to further increase this in response to glucose stimulation. In addition, mdh-2 mutant animals also exhibited a higher prevalence of glucose-induced egg retention with internal hatching events (Bag-of-worms phenotype). | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 01 Aug 2022 00:00:00 |
