PUBLICATION

Skeletal malformations of Meox1-deficient zebrafish resemble human Klippel-Feil syndrome

Authors
Dauer, M.V.P., Currie, P.D., Berger, J.
ID
ZDB-PUB-181003-18
Date
2018
Source
Journal of anatomy   233(6): 687-695 (Journal)
Registered Authors
Berger, Joachim, Currie, Peter D., Dauer, Mervyn
Keywords
MEOX1, Klippel-Feil syndrome, disease modelling, mesenchyme homeobox 1, spinal disease, zebrafish
MeSH Terms
  • Animals
  • Animals, Genetically Modified
  • Bone and Bones/abnormalities*
  • Disease Models, Animal*
  • Gene Knockout Techniques
  • Homeodomain Proteins
  • Humans
  • Klippel-Feil Syndrome/genetics
  • Klippel-Feil Syndrome/pathology
  • Zebrafish
  • Zebrafish Proteins/deficiency*
PubMed
30277257 Full text @ J. Anat.
Abstract
Klippel-Feil syndrome is a congenital vertebral anomaly, which is characterised by the fusion of at least two cervical vertebrae and a clinically broad set of symptoms, including congenital scoliosis and elevated scapula (Sprengel's deformity). Klippel-Feil syndrome is associated with mutations in MEOX1. The zebrafish mutant choker (cho) carries a mutation in its orthologue, meox1. Although zebrafish is being increasingly employed as fidelitous models of human spinal disease, the vertebral column of Meox1-deficient fish has not been assessed for defects. Here, we describe the skeletal defects of meox1cho mutant zebrafish utilising alizarin red to stain bones and chemical maceration of soft tissue to detect fusions in an unbiased manner. Obtained data reveal that meox1cho mutants feature aspects of a number of described symptoms of patients who suffer from Klippel-Feil syndrome and have mutations in MEOX1. These include vertebral fusion, congenital scoliosis and an asymmetry of the pectoral girdle, which resembles Sprengel's deformity. Thus, the meox1cho mutant zebrafish may serve as a useful tool to study the pathogenesis of the symptoms associated with Klippel-Feil syndrome.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping