CRISPR/cas9 genome editing is used to introduce a 16 bp deletion (gRNA c.403-422; NM_133840.2; deletion is c.414-429) mutation to the first coding exon (exon 2), creating a frameshift after codon 139 (of 425) and shortly followed by a termination codon. (J:311491)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count