ZFIN ID: ZDB-PUB-170228-1
A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy
Smith, S.J., Wang, J.C., Gupta, V.A., Dowling, J.J.
Date: 2017
Source: PLoS One   12: e0172648 (Journal)
Registered Authors: Dowling, Jim, Gupta, Vandana A
Keywords: Embryos, Zebrafish, Phenotypes, Skeletal muscles, Chorion, Drug screening, Muscle fibers, Muscular dystrophies
MeSH Terms:
  • Animals
  • Animals, Genetically Modified
  • Disease Models, Animal*
  • Heterozygote
  • Laminin/genetics*
  • Laminin/metabolism
  • Muscle, Skeletal/metabolism
  • Muscular Dystrophies/genetics*
  • Muscular Dystrophies/metabolism
  • Mutation
  • Phalloidine/biosynthesis
  • Phenotype
  • Zebrafish/metabolism
PubMed: 28241031 Full text @ PLoS One
Merosin deficient congenital muscular dystrophy (MDC1A) is a severe neuromuscular disorder with onset in infancy that is associated with severe morbidities (particularly wheelchair dependence) and early mortality. It is caused by recessive mutations in the LAMA2 gene that encodes a subunit of the extracellular matrix protein laminin 211. At present, there are no treatments for this disabling disease. The zebrafish has emerged as a powerful model system for the identification of novel therapies. However, drug discovery in the zebrafish is largely dependent on the identification of phenotypes suitable for chemical screening. Our goal in this study was to elucidate novel, early onset abnormalities in the candyfloss (caf) zebrafish, a model of MDC1A. We uncovered and characterize abnormalities in spontaneous coiling, the earliest motor movement in the zebrafish, as a fully penetrant change specific to caf mutants that is ideal for future drug testing.