A G-to-T mutation was engineered using crRNA, tracrRNA and an ssODN template with CRISPR/Cas9 technology. The c.442G>T mutation changes aspartic acid codon 148 to a tyrosine codon (p.Asp148Tyr), mimicking a mutation found in FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome patients. (J:299152)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count