CRISPR/Cas9 technology using sgRNAs 5-GTGGGCCTTCTTCTGCCGAA-3 and 5-TGGCTGAACACGCTGTGTAC-3generated a frame-shift and subsequent deletion mutation in exon 5. Western blot analysis confirmed absence of protein in heart ventricle. (J:333030)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count