Using CRISPR/Cas9 technology with sgRNAs and a 200-nt single-stranded oligodeoxynucleotides (ssODN), a mutation was introduced to change arginine codon 1078 to a stop codon (p.R1078*). This mutation mimics the p.R1081* found in familial advanced sleep phase (FASP) patients. (J:276566)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count