CRISPR/Cas9 technology targeting exon 2 generated a frame-shift mutation. Immunoblotting confirmed that both expression of the alpha and beta isoforms was absent in skeletal muscle and liver. (J:333249)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count