Gene expression in Meckel's and condylar cartilages from WT and FGFR3 mutant mice

In achondroplasia, the most common form of genetic dwarfism, abnormalities of these cartilages lead to micrognathia, with significant functional repercussions for affected individuals. Using cartilage laser-microdissection and RNA-seq analyses, we analyzed the genes expressed in these cartilages in a mouse model mimicking achondroplasia and compared the transcriptome of Meckel’s and condylar cartilages from E16.5 embryos of control and Fgfr3Y367C/+ mice.

Over 600 genes were differentially expressed. Our data suggest that dysregulation of several pathways due to Fgfr3 gain-of function mutation constitutes an important underlying mechanism in craniofacial defects observed in achondroplasia.