Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Disease_model_annotation: WBDOannot00001365

expand all nodes | collapse all nodes | view schema

Name Class

WBDOannot00001365Disease_termDOID:11722
Disease_of_speciesHomo sapiens
Modeled_byStrainWBStrain00043193
Association_typeis_model_of
Evidence_codeGO_codeIMP
ECO_termECO:0007013
Genetic_sexhermaphrodite
Paper_evidenceWBPaper00056402
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.
Curator_confirmedWBPerson324
Date_last_updated21 Nov 2022 00:00:00