CRISPR/Cas9 technology generated a 1-bp insertion in exon 2, changing the 221 to 222 bases from AC into AAC to silence the expression of Swap70. Western blot analysis confirmed the absence of protein in heart. (J:335520)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count