CRISPR/Cas9 technology using sgRNA 5'-TCAGCCTCCGCACGGACAC-3' generated a 10 bp deletion (TCCCTGACAG) beginning at the codon corresponding to amino acid V756 resulting in a premature stop codon. Western blot analysis confirmed the absence of protein in homozygous brain. (J:302192)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count