Nlgn1^em1Taku

CRISPR/Cas9 technology generated a CCA to CTA change at residue 89 resulting in an amino acid substitution from proline to leucine. Western blot analysis confirmed expression of the protein, with a 30% reduction on the mutant protein expression in heterozygotes and 60% reduction in homozygotes. The P89L mutation recapitulates mutations found in two brothers with autism spectrum disorder. (J:247060)