CRISPR/cas9 genome editing is used to delete exon 9, intron 9, the sequence in exon 10 that contains the beta/gamma; stop codons, and the region of exon 10 downstream of the alpha/stop codon. Immunoblot analysis confirms the absence of alpha and delta splice variants and the presence of the beta/gamma proteins in brain lysates. (J:306787)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count