CRISPR-targeting of exon 3 using sgRNA 5'-AGGTGGCTCTTGATGAGGCGGGG3' deleted 12 bp, disrupting the structure around the active site His111. Western blot analysis confirmed the absence of protein expression in the brain. (J:280143)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count