These observations well recapitulate the clinical phenotypic differences between mutation carriers and non-carriers and may open up new ways to use this new genetic model for preclinical studies to develop new therapeutic target including pathways associated with phenotypic transition of pulmonary artery smooth muscle cells or right ventricular fibrosis or to elucidate the mutation-type specific role of Bmpr2 mutation in the pathogenesis and development of PAH. The gene discussed is BMPR2; the disease is pulmonary arterial hypertension.