Since recessive (e.g. homozygous) ALPK3tv can lead to early onset cardiomyopathy in patients, the cardiac structure and function of homozygous (Hom) mice with the Alpk3 K201X truncation variant were analysed and compared to wildtype (WT) animals alongside heterozygous (Het) animals using echocardiography (Fig. 1, S2, Table S3). The gene discussed is ALPK3; the disease is cardiomyopathy.