CRISPR/Cas9 technology using sgRNA 5-TGACATCGCTGTTATCCAAG-3 generated a 65 bp deletion from intron 2 into exon 3. This deletion does not allow splicing into exon 3, and potential alternative splicing into exons 4, 5 or 6 containing the active sites for Dnase1 enzymatic activity lead to frameshift mutations and premature stop codons. (J:345011)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count