ZFIN ID: ZDB-PUB-181114-5
An Adult Zebrafish Model of Fibrodysplasia Ossificans Progressiva
LaBonty, M., Yelick, P.C.
Date: 2019
Source: Methods in molecular biology (Clifton, N.J.)   1891: 155-163 (Other)
Registered Authors: Yelick, Pamela C.
Keywords: Acvr1l, Disease model, Fibrodysplasia ossificans progressive, Zebrafish
MeSH Terms:
  • Activin Receptors, Type I/genetics
  • Activin Receptors, Type I/metabolism
  • Animals
  • Biomarkers
  • Disease Models, Animal
  • Heat-Shock Response
  • Humans
  • Immunohistochemistry
  • Mice, Transgenic
  • Myositis Ossificans/diagnosis
  • Myositis Ossificans/etiology*
  • Myositis Ossificans/metabolism*
  • Phenotype
  • X-Ray Microtomography
  • Zebrafish
PubMed: 30414131 Full text @ Meth. Mol. Biol.
Fibrodysplasia ossificans progressiva (FOP) is a rare human skeletal disease caused by constitutively activating mutations in the gene ACVR1, which encodes a type I BMP/TGFβ family member receptor. FOP is characterized by progressive heterotopic ossification (HO) of fibrous tissues, including skeletal muscle, tendons, and ligaments, as well as malformation of the big toes, vertebral fusions, and osteochondromas. Surgical interventions in patients often result in enhanced HO, which can exacerbate rather than improve diagnostic outcomes. As a result of these difficulties, a variety of animal models are needed to study human FOP. Here we describe the methods for creating and characterizing zebrafish conditionally expressing Acvr1lQ204D, the first adult zebrafish model for FOP.