Lemd2^em1Eno

CRISPR/Cas9 technology generated a T to G change at position 38 (c.T38>G) resulting in a leucine to arginine substitution at codon 13 (p.L13R). A silent mutation (c.G24>A) was also engineered to prevent recutting after editing. This is a variant found in patients with cardiomyopathy. RT-qPCR showed reduced mRNA levels and Western blot analysis showed that protein levels of both isoforms are reduced and that both isoforms display a greater size. (J:331716)