TALEN-targeting exon 2 deleted 13 bp at the 132nd bp downstream of the ATG stranscription-start site that truncates the protein after Val55. Western blot analysis confirmed the absence of protein expression in heart, lung and brain. (J:270531)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count