Arginine codon 133 (CGG) in exon 2 was changed to leucine (CTG) (p.R133L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with atypical progeria syndrome (APS). (J:338760)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count