Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation

B. Kerry Maddox, Silvio Garofalo, William A. Horton, Martin D. Richardson, Dennis R. Trune

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Abnormal craniofacial features of a transgenic mouse model of chondrodysplasia with a type II collagen mutation (Gly574Ser) are described in this report. In addition to a shortened mandible and cleft palate, a misshapen otic capsule was observed. Interestingly, hearing impairment is often a component of the chondrodysplasia phenotype that results from mutations in COL2A1. To identify a potential mechanism in the hearing loss associated with type II collagen mutations, we examined the development of the otic capsule in the transgenic mice. It appeared to be smaller overall, relative to the skull proportions, and rather than the normal rounded dimensions, the transgenic capsule was flattened and elongated. We speculate that the cartilage of the developing otic capsule was less able to resist the mechanical forces from the developing brain and other tissues within the cranium and thus became deformed under pressure. We further speculate that the hearing loss associated with the chondrodysplasia phenotype is at least partially due to these defects in the developing cartilage matrix of the otic capsule.

Original languageEnglish (US)
Pages (from-to)195-201
Number of pages7
JournalJournal of Craniofacial Genetics and Developmental Biology
Issue number4
StatePublished - 1998


  • Cartilage
  • Chondrodysplasia
  • Collagen
  • Craniofacial development
  • Ear
  • Transgenic mice

ASJC Scopus subject areas

  • Genetics
  • Developmental Biology


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