Exon 1 of the gene was targeted with sgRNAs (targeting CTCCGAGGTTTCGGCCATCGG and CTGGAAAGGGGCGGAATCCGG) using CRISPR/Cas9 technology, resulting in a one nucleotide insertion (duplication) (A) before/after (of) coding nucleotide 116, causing a frameshift and premature stop codon. (J:308296)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count