Sgcb^em1Isrd

A homologous recombination event was induced using CRISPR/Cas9 based-cleavage at the mutation site and a homologous donor plasmid bearing an ACC codon to AGG change at position 458/459 resulting in a threonine to arginine at amino acid 153 (T153R) in exon 4 of the Sgcb gene and a self-excision LoxP-flanked neomycin resistance cassette. This mutation recapitulates a human missense mutation of threonine to arginine at position 151 in patients with sarcoglycanopathies. (J:257027)