CRISPR/cas9 genome editing used guide RNAs (AACTTGCAGTAATTGTCATT and AGGATTGGAAACCTGCTGGTG) to target exon 4. Donor DNAs were created encoding a N173S mutation (AAT to TCT, asparagine to serine). (J:101977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count