Scn2a^em1Gsp

CRISPR/Cas9 technology deleted 8 bp (nucleotides 5693-5697; CCACC and nucleotides 5699-5701; CTC) and generated a frameshift after T1898 in the C-terminus and a subsequent stop codon following 26 potentially novel amino acids. Truncation at T1898 eliminates the binding site for the channel auxiliary subunit calmodulin which regulates the persistent Na+ current. Protein truncation variants in the final exon are common to multiple autism spectrum disorder-associated mutations in this gene. (J:311772)