Arginine codon 355 (CGA) in exon 6 was changed to a stop codon (TGA) (p.R355*) using an sgRNA and an ssODN template with CRISP/Cas9 technology. The mutation is the equivalent of the human p.R359* mutation associated with thrombocytopenia 5 (T5). (J:342774)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count