Mfn2^em3Gwd

CRISPR/Cas9 technology generated an A to G change resulting in a methionine to valine substitution at amino acid 376 (p.M376V) in exon 12. A synonymous mutation p.S378 (TCC to TCA) was also introduced to prevent the binding and recutting of the sequence by gRNA. This is a Charcot-Marie-Tooth disease type 2A-associated mutation. (J:342938)