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WormBase Tree Display for Disease_model_annotation: WBDOannot00001366

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Name Class

WBDOannot00001366Disease_termDOID:11722
Disease_of_speciesHomo sapiens
Modeled_byStrainWBStrain00043193
Association_typeis_model_of
Evidence_codeGO_codeIMP
ECO_termECO:0007013
Modifier_infoModifier_moleculeWBMol:00004867
Modifier_association_typecondition_ameliorated_by
Genetic_sexhermaphrodite
Paper_evidenceWBPaper00062311
Disease_model_descriptionMyotonic 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_confirmedWBPerson324
Date_last_updated21 Nov 2022 00:00:00