CRISPR/Cas9 genome editing is use to introduce a 13 bp deletion in exon 2 of the gene. This mutation results in a frameshift and premature termination that eliminates more than 80% of the native protein coding sequence. (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count