CRISPR/Cas9 endonuclease-mediated genome editing is used to create a 12 base pair deletion in exon 4. The mutation removes the KRKR coding sequence. Two guide RNAs (5'-ccagcctcaggaagcg gaaa-3'; 5'-cggaatccagcctcaggaag-3'), cas9 endonuclease and a 120-nucleotide (nt) repair template are used. The deletion disrupts binding of heparin sulfate but does not affect IFNGR binding. (J:335280)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count