CRISPR/Cas9 technology generated a 10-bp deletion in exon 4 that results in a frameshift and premature stop codon. Western blot analysis confirmed the absence of protein in brain lysates. (J:344184)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count