Exon 4 was replaced by a reversed version of exon 4 that is flanked by lox71 and lox66 sites via CRISPR/Cas9 technology. Western blot analysis confirmed absence of protein expression (both isoform 1 and 2). The correct orientation of exon 4, and thus expression of isoform 1, is restored after cre-mediated recombination. (J:331942)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count