Transcriptomic analysis of first molars in a mouse model of Loeys-Dietz Syndrome Type II harboring a G357W mutation in the Tgfbr2 gene

Loeys Dietz Syndrome (LDS) is a connective tissue disorder caused by mutations along the TGF-beta signaling pathway and characterized by severe aortic aneurysm and craniofacial anomalies. Patients with LDS Type II (LDS2), caused by mutations in the TGFBR2 gene also exhibit enamel defects. A mouse model for LDS2, harboring a G357W mutation in the Tgfbr2 gene, recapitulates the cardiovascular, craniofacial and dental phenotype of the disease. This transcriptomic analysis aimed at identifying genes that are differentially regulated in first molars of Tgfbr2-G357W/+ mice at postnatal day 5 and 11. Total RNA was extracted from enamel organs from Tgfbr2-G357W/+ mice (LDSR2, KI) and Tgfbr2-+/+ wild-type littermates (WT). Total RNA from first mandibular molars at P5 and P11 from five Tgfbr2-G357W/+ mice (LDSR2, Het) and eight Tgfbr2-+/+ wild-type littermates (WT) was collected for bulk RNA-seq analysis.