CRISPR/Cas9 genome editing is used to insert alanine substitution mutations P256A (nucleotide change: CCT to GCA) and W261A (nucleotide change: TGG to GCC). The mutations eliminate Wnt7a signaling by the Reck gene, but do not affect protein folding or trafficking to the plasma membrane. (J:277288)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count