CRISPR/Cas9 technology introduced a leucine, phenylalanine, and tryptophan (LFW) to alanines (AAA) amino acid change in the pore domain. This is a dominant negative allele. (J:334958)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count