Jag1^em2Lutzy

CRISPR/cas9 genome editing is used to create a S577R point mutation (AGC to AGA) in exon 14 as well as a nucleotide change encoding V580V silent mutation (GTG to GTC; resulting in loss of BspEI restriction site recognition). The mutation is associated with peripheral nerve disease, Charcot-Marie-Tooth disease type 2 (CMT2). (J:297767)