WormBase Tree Display for Disease_model_annotation: WBDOannot00001395
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| WBDOannot00001395 | Disease_term | DOID:11726 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Genotype | WBGenotype00000150 | |
| Asserted_gene | WBGene00003052 | ||
| Association_type | is_model_of | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00038510 | ||
| Disease_model_description | Mutations in the human LMNA gene underlie many laminopathic diseases, including Emery-Dreifuss muscular dystrophy (EDMD). The K46 Caenorhabditis elegans lamin mutant, corresponding to EDMD-linked K32 in human lamins A and C. GFP:K46 animals had motility defects and muscle structure abnormalities as well as mislocalization of emerin away from the nuclear periphery. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 26 Jul 2023 00:00:00 |
