Pah^em1Liuq
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pah^em1Liuq
• Name: phenylalanine hydroxylase; endonuclease-mediated mutation 1, Liuqing Yang
• MGI ID: MGI:7488573
• Synonyms: Pah^R408W
• Gene: Pah Location: Chr10:87357657-87419998 bp, + strand Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
• Alliance: Pah^em1Liuq page

Mutation origin

• Strain of Origin: Not Applicable

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Arginine codon 408 (CGG) was changed to tryptophan (TGG) (p.R408W) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the same human mutation associated with phenylketonuria (PKU). (J:324861)

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: 52 strains or lines available

References

• Original: J:324861 Li Y, et al., A noncoding RNA modulator potentiates phenylalanine metabolism in mice. Science. 2021 Aug 6;373(6555):662-673
• All: 1 reference(s)