OMIA:000388-8090 : Fibrodysplasia ossificans in Oryzias latipes (Japanese medaka) |
In other species: dog , domestic cat
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 135100 (trait) , 102576 (gene)
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)
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000388-8090: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
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. |
Edit History
- Created by Imke Tammen2 on 17 Sep 2023
- Changed by Imke Tammen2 on 17 Sep 2023