Crouzon syndrome mouse model exhibits cartilage hyperproliferation and defective segmentation in the developing trachea

Elizabeth A. Hines, Mary Kayt N. Jones, Julie F. Harvey, Chad Perlyn, David M. Ornitz, Xin Sun, Jamie M. Verheyden

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Crouzon syndrome is the result of a gain-of-function point mutation in FGFR2. Mimicking the human mutation, a mouse model of Crouzon syndrome (Fgfr2342Y) recapitulates patient deformities, including failed tracheal cartilage segmentation, resulting in a cartilaginous sleeve in the homozygous mutants. We found that the Fgfr2C342Y/C342Y mutants exhibited an increase in chondrocytes prior to segmentation. This increase is due at least in part to over proliferation. Genetic ablation of chondrocytes in the mutant led to restoration of segmentation in the lateral but not central portion of the trachea. These results suggest that in the Fgfr2C342Y/C342Y mutants, increased cartilage cell proliferation precedes and contributes to the disruption of cartilage segmentation in the developing trachea.

Original languageEnglish
Pages (from-to)1375-1380
Number of pages6
JournalScience China Life Sciences
Volume62
Issue number10
DOIs
StatePublished - Oct 1 2019

Keywords

  • development
  • lung
  • mouse
  • trachea

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