To explore the potential role of potentially pathogenic ATP13A3 variants in PAH, we generated a new mouse line harbouring an Atp13a3 variant (P452LfsTer7), homologous to a human disease–associated ATP13A3 variant (P456Lfs).7 The mice were viable and fertile, although homozygous males and females were born at a lower frequency than the expected Mendelian ratio [males (n = 110): 26.4% Wt: 57.3%, Het: 16.3% Hom; females (n = 107): 28.0% Wt: 56.1%, Het: 15.9% Hom]. This evidence concerns the gene ATP13A3 and pulmonary arterial hypertension.