CRISPR/cas9 genome editing is used to insert a P3528S (proline to serine; C to T) substitution. The mutation corresponds to the human P3527S mutation. (J:344242)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count