WormBase Tree Display for Disease_model_annotation: WBDOannot00001109
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| WBDOannot00001109 | Disease_term | DOID:10595 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Strain | WBStrain00048670 | |
| Association_type | is_model_of | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Experimental_condition | Inducing_chemical | WBMol:00003650 | |
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00061788 | ||
| Disease_model_description | The p.R158H mutation in the pyruvate dehydrogenase kinase 3 (PDK3) gene is the genetic cause for an X-linked form of axonal Charcot-Marie-Tooth disease, CMTX6; the equivalent mutation in the elegans ortholog pdhk-2 (R158H mutation at the conserved amino acid position R159) causes reduced body size and animals to be sensitive to drugs such as aldicarb and exhibit pre-synaptic neuronal transmission deficits such as paralysis. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 01 Mar 2022 00:00:00 |
