Vps16^em1Weli

A c.156C>A point mutation was introduced in exon 3 using an sgRNA and a single stranded oligonucleotide template with CRISPR/Cas9 technology. This changes codon 52 from asparagine to lysine (p.Asn52Lys or p.N52K), mimicking a mutation found in some adolescent-onset primary dystonia patients. Western blots showed reduced expression of the peptide coded by this allele. (J:243974)