CRISPR/Cas9 genome editing technology was used to delete a segment of the gene that contained the exon 5, which encodes a part of the transmembrane domains that are required for activation. (J:343264)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count