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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