Phenylalanine codon 867 (TTT) in exon 15 was changed to leucine (CTT) (p.F867L) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the same human mutation associated with vein of Galen malformations (VOGMs). (J:342872)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count