CRISRP/Cas9 technology deleted exons 3-6, leading to an in-frame deletion of amino acids 22-209 which constitutes 86% of the N terminus. Isoform 1 (Dnmt3a1) thus lacks most of the N terminus but is transcribed normally. Expression of the truncated protein was confirmed in the brain. (J:331942)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count