Pah^em2Xiwan
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pah^em2Xiwan
• Name: phenylalanine hydroxylase; endonuclease-mediated mutation 2, Xiao Wang
• MGI ID: MGI:7574700
• Synonyms: Pah deltaGTAA
• Gene: Pah Location: Chr10:87357657-87419998 bp, + strand Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
• Alliance: Pah^em2Xiwan page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: CRISPR/cas9 endonuclease-mediated homology-directed repair was used to replace a portion of exon 7 with the orthologous human PAH sequence resulting in a non-humanized loss-of-function allele with a 4-bp deletion (deltaGTAA) just distal to the site of an amino acid substitution at position 281 altering proline to leucine (P281L; c.842 C to T) of the phenylalanine hydroxylase (Pah) gene on chromosome 10. (J:344273)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pah Mutation: 53 strains or lines available

References

• Original: J:344273 Brooks DL, et al., Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing. Nat Commun. 2023 Jun 10;14(1):3451
• All: 1 reference(s)