CRISPR/cas9 endonuclease-mediated genome editing is used to create an cysteine to tryptophan substitution at position 133 (C133W, TGT to TGG) and a silent C to G mutation in codon 132 (T132T) in exon 5. The silent mutation eliminates the PAM site and prevents recutting with Cas9. (J:332542)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count