Two CRISPR guide RNAs triggered cuts in both exon 1 and exon 25, leading to a 14-kb deletion that eliminates exons 2-24 and fuses exon 1 to 25. The protein is out-of-frame, causing a premature stop codon in exon 25. (J:94077)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count