OMIA:000388-8090 : Fibrodysplasia ossificans in Oryzias latipes (Japanese medaka)
Categories: Muscle phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Cross-species summary: Casal et al. (2019): "also called progressive ossifying myositis and myositis ossificans"
Species-specific description: Trumpp et al. (2023) assessed if medaka are a suitable model for fibrodysplasia ossificans progressiva (FOP), which in humans is caused by variants in the ACVR1 gene: "FOP-typical elevated SMAD signaling [was observed] when the medaka type I receptors carry the R206H equivalent FOP mutation." (GMO)
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|2023||Trumpp, M., Tan, W.H., Burdzinski, W., Basler, Y., Jatzlau, J., Knaus, P., Winkler, C. :|
|Characterization of fibrodysplasia ossificans progessiva relevant Acvr1/Acvr2 activin receptors in medaka (Oryzias latipes). PLoS One 18:e0291379, 2023. Pubmed reference: 37708126. DOI: 10.1371/journal.pone.0291379.|
- Created by Imke Tammen2 on 17 Sep 2023
- Changed by Imke Tammen2 on 17 Sep 2023