CRISPR/Cas9 mutagenesis was used to generate a site in exon 14 (c.1665ins) to insert a 3-stop donor cassette, providing integration of an ochre termination codon in all three reading frames into the endogenous gene. This mutation introduced a truncation in the protein reading frame at codon 555. (J:269442)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count