CRISPR/Cas9 genome editing is used to insert a 3xFLAG tag sequence at the end of the third domain of the gene (after 5'-CTCCAAGCGTGTGGAGTTC). The PAM site (AGG) was also mutated to AGA to avoid cleaving by Cas9. (J:278920)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count