CRISPR/cas9 genome editing is used to generate the H288D missense mutation. (CAT to GAT). The H288D missense mutation that corresponds to the human H310D clinical mutation associated with Zellweger syndrome and peroxisome biogenesis disorders type 6A and 6B .Additionally, the following silent nucleotide changes were included to improve efficiency by preventing guide reassociation and retargeting of the modified allele with CRISPR/Cas9 (C286C [TGT to TGC] and G287G [GGC to GGT]). (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count