CRISPR/Cas9 technology resulted in a 409 base pair deletion (c.253-200_294-7827del/p.Iso58Argfs*7) of exon 3 that generates a frameshift mutation and encodes for a truncated protein consisting of 58 N-terminal amino acids of KYNU. Western blot analysis confirmed absence of protein in liver and enzyme assays confirmed a null allele. (J:272339)