WormBase Tree Display for Disease_model_annotation: WBDOannot00001295
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| WBDOannot00001295 | Disease_term | DOID:0060340 | |
|---|---|---|---|
| Disease_of_species | Homo sapiens | ||
| Modeled_by | Variation | WBVar02154124 | |
| Asserted_gene | WBGene00000491 | ||
| Association_type | is_implicated_in | ||
| Evidence_code | GO_code | IMP | |
| ECO_term | ECO:0007013 | ||
| Genetic_sex | hermaphrodite | ||
| Paper_evidence | WBPaper00060234 | ||
| Disease_model_description | Ciliopathies are a group of developmental and degenerative disorders characterised by cilia dysfunction; TOGARAM1 (TOG array regulator of axonemal microtubules 1) encodes a member of the Crescerin1 family of proteins regulating microtubule dynamics. In C. elegans, the engineered che12(pan11[Arg284Trp (AGA >TGG)]) mutation corresponds to the missense variant in TOGARAM1; mutant animals displayed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons; this data points to a causative role of TOGARAM1 variants in the pathogenesis of this ciliopathy. | ||
| Curator_confirmed | WBPerson324 | ||
| Date_last_updated | 27 Jul 2022 00:00:00 |
