Scn8a^em1Aesc

CRISPR/Cas9 technology generated a G to T change resulting in an arginine to leucine substitution at amino acid 1618 (p.R1618L) located in the S4 segment of the DIV transmembrane domain. This corresponds to the human p.R1620L de novo mutation identified in a patient with autism spectrum disorder, intellectual disability and behavioral seizures. Two silent mutations were also introduced to create a Taq restriction enzyme site. (J:335370)