CRISPR/Cas9 technology generated a 134 bp deletion in exon 2. RT-PCR confirmed absence of mRNA in the gastrocnemius muscle and Western blot analysis confirmed absence of protein in the plasma. (J:322617)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count