CRISPR/cas9 genome editing is used to introduce a W554L (TGG to CTG) mutation into exon 15 to modify residues near the putative pore of the channel. Three additional silent mutations were also created to add a BstAP1 enzyme restriction site. (J:306425)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count