CRISPR/cas9 endonuclease-mediated genome editing is used to create an amino acid substitution at position 353 (histidine to lysine, H353K, CAC to AAA) in exon 8 (isoform Ace2-201). The mutation was confirmed by sequencing. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count