ZFIN ID: ZDB-PUB-031119-5
Radiographic analysis of zebrafish skeletal defects
Fisher, S., Jagadeeswaran, P., and Halpern, M.
Date: 2003
Source: Developmental Biology   264(1): 64-76 (Journal)
Registered Authors: Fisher, Shannon, Halpern, Marnie E., Jagadeeswaran, Pudur
Keywords: Zebrafish; X-ray; Osteogenesis imperfecta; Collagen
MeSH Terms:
  • Amino Acid Sequence
  • Animals
  • Bone and Bones/abnormalities*
  • Collagen Type I/genetics*
  • Disease Models, Animal
  • Female
  • Humans
  • In Situ Hybridization
  • Molecular Sequence Data
  • Mutation
  • Osteogenesis Imperfecta/genetics*
  • Osteogenesis Imperfecta/pathology
  • Phenotype
  • Zebrafish/abnormalities*
  • Zebrafish/genetics
  • Zebrafish Proteins/genetics
  • Zebrafish Proteins/metabolism
PubMed: 14623232 Full text @ Dev. Biol.
Systematic identification of skeletal dysplasias in model vertebrates provides insight into the pathogenesis of human skeletal disorders and can aid in the identification of orthologous human genes. We are undertaking a mutagenesis screen for skeletal dysplasias in adult zebrafish, using radiography to detect abnormalities in skeletal anatomy and bone morphology. We have isolated chihuahua, a dominant mutation causing a general defect in bone growth. Heterozygous chihuahua fish have phenotypic similarities to human osteogenesis imperfecta, a skeletal dysplasia caused by mutations in the type I collagen genes. Mapping and molecular characterization of the chihuahua mutation indicates that the defect resides in the gene encoding the collagen I(alpha1) chain. Thus, chihuahua accurately models osteogenesis imperfecta at the biologic and molecular levels, and will prove an important resource for studies on the disease pathophysiology. Radiography is a practical screening tool to detect subtle skeletal abnormalities in the adult zebrafish. The identification of chihuahua demonstrates that mutant phenotypes analogous to human skeletal dysplasias will be discovered.