Gch1^em1Ypt

CRISPR/Cas9 technology generated a T to G change at position 323 (c.323T>G) resulting in a leucine to arginine substitution at amino acid 108 (p.L108R) which corresponds to the human p.L117R mutation identified in a patient with Bh4-deficient hyperphenylalaninemia B. A silent mutation (GTC to GTA) was also introduced to prevent the biding of sgRNA to the oligo donor. (J:295169)