CRISPR/cas9 mediated recombination using a repair RNA with sequence 5'-AGGTGCCAGGAAATCAGACCTCTACTACCCTCAAGCTGTCCCCCTATGTCCACTACACaTTTgcGGTCACTGCCATTAACAAATATGGTCCTGGAGAACCCAGCCCTGTCTCTGAGACTG-3' (mutated nucleotides in small letters) created a p.R687A substitution, a restriction site for screening (AciI) and a silent mutation for a degenerated PAM sequence. This mutation disrupts the MBP cleavage site preventing the production of the L1-70 and L1-80 fragments. However, the full length protein is expressed. (J:308569)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count