Using a crRNA (AGUGAUGGGUCUGUGUAUAGGUUUUAGAGCUAUGCUGUUUUG) with CRISPR/Cas9 technology, a 2 bp deletion (TA) was created in the coding region of exon 1, causing a frameshift and premature stop codon. (J:313659)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count