Septal chondrocyte hypertrophy contributes to midface deformity in a mouse model of Apert syndrome.

ABSTRACT: Midface hypoplasia is a major manifestation of Apert syndrome. However, the tissue component responsible for midface hypoplasia has not been elucidated. We studied mice with a chondrocyte-specific Fgfr2^S252W mutation (Col2a1-cre; Fgfr2^S252W/+) to investigate the effect of cartilaginous components in midface hypoplasia of Apert syndrome. In Col2a1-cre; Fgfr2^S252W/+ mice, skull shape was normal at birth, but hypoplastic phenotypes became evident with age. General dimensional changes of mutant mice were comparable with those of mice with mutations in EIIa-cre; Fgfr2^S252W/+, a classic model of Apert syndrome in mice. Col2a1-cre; Fgfr2^S252W/+ mice showed some unique facial phenotypes, such as elevated nasion, abnormal fusion of the suture b

SUBMITTER: Kim BS 

PROVIDER: S-EPMC8041873 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature