PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.

Abstract excerpt

We have generated using CRISPR/Cas9 technology a partially humanized mouse model of the neurometabolic disease phenylketonuria (PKU), carrying the highly prevalent PAH variant c.1066-11G>A. This variant creates an alternative 3' splice site, leading to the inclusion of 9 nucleotides coding for 3 extra amino acids between Q355 and Y356 of the protein. Homozygous Pah c.1066-11A mice, with a partially humanized...

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• Autophagy
• Brain
• CRISPR-Cas Systems
• Disease Models, Animal
• Liver