Targeted deletion of impairs skeletal muscle function in mice.

KCNE3 (MiRP2) forms heteromeric voltage-gated K channels with the skeletal muscle-expressed KCNC4 (K3.4) α subunit. was the first reported skeletal muscle K channel disease gene, but the requirement for in skeletal muscle has been questioned.

Kcne2 deletion causes early-onset nonalcoholic fatty liver disease via iron deficiency anemia.

Nonalcoholic fatty liver disease (NAFLD) is an increasing health problem worldwide, with genetic, epigenetic, and environmental components. Here, we describe the first example of NAFLD caused by genetic disruption of a mammalian potassium channel subunit. Mice with germline deletion of the KCNE2 potassium channel β subunit exhibited NAFLD as early as postnatal day 7.

Kcne2 deletion creates a multisystem syndrome predisposing to sudden cardiac death.

Background: Sudden cardiac death (SCD) is the leading global cause of mortality, exhibiting increased incidence in patients with diabetes mellitus. Ion channel gene perturbations provide a well-established ventricular arrhythmogenic substrate for SCD. However, most arrhythmia-susceptibility genes, including the KCNE2 K(+) channel β subunit, are expressed in multiple tissues, suggesting potential multiplex SCD substrates.

Kcne3 deletion initiates extracardiac arrhythmogenesis in mice.

Mutations in the human KCNE3 potassium channel ancillary subunit gene are associated with life-threatening ventricular arrhythmias. Most genes underlying inherited cardiac arrhythmias, including KCNE3, are not exclusively expressed in the heart, suggesting potentially complex disease etiologies. Here we investigated mechanisms of KCNE3-linked arrhythmogenesis in Kcne3(-/-) mice using real-time qPCR, echo- and electrocardiography, ventricular myocyte patch-clamp, coronary artery ligation/reperfusion, blood analysis, cardiac synaptosome exocytosis, microarray and pathway analysis, and multitissue histology.