Pah^{tm2.1(PAH*)Xiwan}

Homologous recombination in C57BL/6 mouse embryonic stem cells was used to replace exon 12 with the orthologous genomic DNA of human PAH from approximately 500 bp upstream of exon 10 through approximately 600 bp downstream of exon 12. The knockin human region included the c.1066-11G>A variant, introduced by alteration of the corresponding position in intron 11 from a G to an A. The construct also included a loxP-flanked neomycin selection cassette upstream of exon 12 which was subsequently removed by crossing to Cre deleter. (J:344302)