WormBase Tree Display for Disease_model_annotation: WBDOannot00001215
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WBDOannot00001215 | Disease_term | DOID:0050726 | |
---|---|---|---|
Disease_of_species | Homo sapiens | ||
Modeled_by | Genotype | WBGenotype00000122 | |
Association_type | is_model_of | ||
Evidence_code | GO_code | IMP | |
ECO_term | ECO:0007013 | ||
Genetic_sex | hermaphrodite | ||
Paper_evidence | WBPaper00064111 | ||
Disease_model_description | Type 1 Tyrosinemia (HT1) is a rare genetic disorder stemming from mutations in the tyrosine catabolism enzyme fumarylacetoacetate hydrolase (FAH) and has been modeled in fah-1 mutant animals in C. elegans with several phenotypes including the activation of SKN-1/NRF2. A tandem knockdown of fah-1 and tatn-1 significantly rescued body size and suppressed SKN-1 activation in comparison to fah-1 knockdown alone. This data confirms that other tyrosine catabolism enzymes affect the physiological phenotypes of fah-1 models. | ||
Curator_confirmed | WBPerson324 | ||
Date_last_updated | 03 Jun 2022 00:00:00 |