TALEN pairs targeting the second exon lead to a 2 nucleotide frameshift deletion resulting in a premature termination codon after codon 133 and removing the leucine-rich repeat and WH2 actin-binding domains. Western blot analysis confirmed absence of protein in skeletal muscle. (J:222174)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count