CRISPR/Cas9 technology generated a 1-bp deletion into exon 5. This corresponds to a de novo frameshift mutation (chr11:64621996delC) identified in an individual with bipolar disorder. Western blot analysis confirmed expression of a truncated protein in the hippocampus. (J:322318)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count