Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.

ABSTRACT:

Objectives

To characterize tracheal cartilage morphology in mouse models of fibroblast growth factor receptor (Fgfr2)-related craniosynostosis syndromes. To establish relationships between specific Fgfr2 mutations and tracheal cartilaginous sleeve (TCS) phenotypes in these mouse models.

Methods

Postnatal day 0 knock-in mouse lines with disease-specific genetic variations in the Fgfr2 gene (Fgfr2^C342Y/C342Y , Fgfr2^C342Y/+ , Fgfr2^+/Y394C , Fgfr2^+/S252W , and Fgfr2^+/P253R ) as well as line-specific controls were utilized. Tracheal cartilage morphology as measured by gross analyses, microcomputed tomography (μCT), and histopathology were compared using Chi-squared and single-factor analysis of variance statistical tests.

SUBMITTER: Lam AS 

PROVIDER: S-EPMC7930142 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature