Original paper
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice
Abstract
Cantu syndrome (CS) is caused by gain-of-function (GOF) mutations in pore-forming (Kir6.1, KCNJ8) and accessory (SUR2, ABCC9) ATP-sensitive potassium (KATP) channel subunits, the most common mutations being SUR2[R1154Q] and SUR2[R1154W], carried by approximately 30% of patients. We used CRISPR/Cas9 genome engineering to introduce the equivalent of the human SUR2[R1154Q] mutation into the mouse ABCC9 gene. Along with minimal CS disease features,...
Paper Details
Title
Complex consequences of Cantu syndrome SUR2 variant R1154Q in genetically modified mice
Published Date
Mar 8, 2021
Journal
Volume
6
Issue
5
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Notes
History