Atxn1^em2Hzo

CRISPR/cas9 genome editing was used to introduce a p.S751A (serine to alanine, TCG to GCG) mutation and additional synonymous mutations (altering the PAM motif to increase editing efficiency and facilitate genotyping) in zygotes containing the Atxn1tm1Hzo allele. The p.S751A mutation in mouse is homologous to p.S776A in human. The mutation abolishes phosphorylation of the protein, as confirmed by western blotting. ATXN1 protein levels are reduced in all tested brain regions. (J:305291)