CRISPR/Cas9 technology deleted the intronic promoter (including the first noncoding exon) of isoform 2 generating a knock-out of isoform 2 (Dnmt3a2). Western blot analysis confirmed the absence of isoform 2 protein in thymus and brain without affecting expression of isoform 1. (J:331942)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count