CRISPR targeting produced a ACGG to GGCC nucleotide substitution that results in the amino acid substitution of alanine for arginine at position 60 (R60A). This mutation abolishes cytoplasmic cleavage. (J:256230)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count