A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB)

RNA-seq was performed to identify pathogenic mechanisms in craniofacial development due to RUNX2 gain of function. RNA-seq was performed in WT, heterozygous, and homozygous mice carrying a GFP insertion within the mouse Runx2 3’ UTR that leads to protein upregulation and phenotypes resembling the MDMHB human disorder. RNA-seq was performed on e11.5 first branchial arch tissue, GFP sorted dissociated E13.5 mandibular tissue, and GFP sorted dissociated P5 calvaria tissue.