OMIA:000388-8090 : Fibrodysplasia ossificans in Oryzias latipes (Japanese medaka) |
In other species: dog , domestic cat
Categories: Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 135100 (trait) , 102576 (gene)
Single-gene trait/disorder: yes
Disease-related: 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:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
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
- Changed by Imke Tammen2 on 10 Dec 2023