CRISPR/Cas9 technology targeting the translation start site in exon 2 generated a 246 bp deletion. Western blot analysis confirmed absence of protein in the brain of homozygotes. (J:337720)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count