The transgene was generated with a modified version of human genomic BAC RP11-150L1. Using recombineering, A>G and C>T substitutions were introduced that resulted in D299G (p.Asp299Gly) and T399I (p.Thr399Ile) mutations in the translated petide, respectively. The copy number of this allele, as determined by RT-PCR, is 1. (J:248428)