Project Grant R21OD037849

This Project Grant award from the National Institutes of Health (NIH) for $193,101.00, under the NIH Research Infrastructure Programs (CFDA 93.351), will support the development of a TMEM63B channelopathy mouse model at Duke University. The goal is to create a mouse model with a human gain-of-function mutation in the TMEM63B gene, which is associated with diverse symptoms like epilepsy and intellectual disabilities. This mouse model will allow researchers to investigate the in vivo implications of this mutation, specifically examining the mutated ion channel's role and its newfound lipid transport property across various cell types and disease contexts. After validation through functional assays, the mouse line will be made available to researchers across disciplines to further study the pathophysiology of this mechano- and osmo-sensing ion channel in health and disease, with the potential to inform therapeutic approaches.