Modulation of striatal cAMP levels: a paradigm shift in the treatment of hyperkinetic movement disorders

Study of the striatal transcriptome consequences of a mutation of the ADCY5 gene, encoding the adenylyl cyclase 5 protein, an enzyme producing cAMP in the striatum. The Adcy5R419W mouse line was generated on a C57BL/6N background using CRISPR/Cas9-mediated genome editing. Mutations were introduced into exon 2 of the Adcy5 gene, located on chromosome 16. The c.1255C>T (p.R419W) substitution recapitulates the human p.R418W variant, accounting for the one-residue offset between mouse and human proteins. RNA profiling of striatal homogenates from adult animals of the Adcy5R419W (Adcy5 KI) mouse line mice and their Wild-type littermates (WT)