CRISPR/Cas9 technology using gRNAs 5'-CTAACCTAGGCGCCACACGA (targeting the promoter region) and 5'-TAGACGTTGGAGTTCTATGG (targeting the region after exon 12) deleted the entire gene (exons 1 to 12). Western blot analysis confirmed absence of protein in homozygous neurons. (J:308069)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count