WormBase Tree Display for Disease_model_annotation: WBDOannot00001366
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WBDOannot00001366 | Disease_term | DOID:11722 | |
---|---|---|---|
Disease_of_species | Homo sapiens | ||
Modeled_by | Strain | WBStrain00043193 | |
Association_type | is_model_of | ||
Evidence_code | GO_code | IMP | |
ECO_term | ECO:0007013 | ||
Modifier_info | Modifier_molecule | WBMol:00004867 | |
Modifier_association_type | condition_ameliorated_by | ||
Genetic_sex | hermaphrodite | ||
Paper_evidence | WBPaper00062311 | ||
Disease_model_description | Myotonic dystrophy type 1 (DM1) is an autosomal-dominant inherited disorder caused by the expansion of CTG repeats in the 3 prime untranslated region of the DMPK gene. The RNAs bearing these expanded repeats have a range of toxic effects. The C. elegans DM1 model expresses 123 CUG repeats (123CUG) and exhibits motility defects and an increased susceptibility to stress. In this disease model, perturbing the RNA interference machinery using aurintricarboxylic acid, annihilates the RNA toxicity and ameliorates disease phenotypes, showing potential relevance for more expansion repeat disorders. | ||
Curator_confirmed | WBPerson324 | ||
Date_last_updated | 21 Nov 2022 00:00:00 |