CRISPR/Cas9 genome editing is used to introduce a 4 bp CAAG deletionin exon 15. The mutation causes a frameshift that results in a premature stop codon. (J:284697)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count