Small molecule inhibition rescues the skeletal dysplasia phenotype of Trpv4 mutant mice

The TRPV4 skeletal disorders are characterized by short stature and scoliosis but the cellular mechanisms behind this phenotype are unclear. We isolated tibial and femoral cartilage growth plate chondrocytes from postnatal day 3 wild type and Col2a1-Cre driven Trpv4 p.R594H conditional knock-in mice, which models the phenotype, and analyzed differential expression patterns using single cell RNA-seq. Overall design: Growth plate chondrocytes from wild type and Col2a1-Cre induced Trpv4 p.R594H conditional knock-in mice were isolated from femoral and tibial cartilage tissue at postnatal day 3 and analyzed using scRNAseq.