Exon 7 was targeted for a G-to-A mutation at alanine codon 449 (GCT), changing it to threonine (ACT) (c.1345G>A, p.Ala449Thr), with sgRNAs and an ssODN template using CRISPR/Cas9 technology. This mutation mimics the most common human recessive mutation p.Ala467Thr. (J:307133)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count