CRISPR/Cas9 genome editing is used to generate a 10 bp deletion (AGGGGCTCAC) in exon 8 of the gene, creating a null allele. (J:255168)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count