Pah^{tm1.1(PAH*R408W)Xiwan}
Targeted Allele Detail

Summary

• Symbol: Pah^{tm1.1(PAH*R408W)Xiwan}
• Name: phenylalanine hydroxylase; targeted mutation 1.1, Xiao Wang
• MGI ID: MGI:7574743
• Synonyms: PAH c.1222C>T
• Gene: Pah Location: Chr10:87357657-87419998 bp, + strand Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
• Alliance: Pah^{tm1.1(PAH*R408W)Xiwan} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:344302
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Homologous recombination in C57BL/6 mouse embryonic stem cells was used to replace exon 12 with the orthologous human PAH exon 12 sequence including 500 bp of the flanking genomic sequence of both 5' and 3' of exon 12. Additionally, exon 12 also contains the amino acid substitution at position 408 altering arginine to tryptophan (R408W; c.1222 C to T) of the phenylalanine hydroxylase (Pah) gene on chromosome 10. 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)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Pah Mutation: 49 strains or lines available

References

• Original: J:344302 Brooks DL, et al., Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need. Am J Hum Genet. 2023 Dec 7;110(12):2003-2014
• All: 1 reference(s)