Pah^em1Coha
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pah^em1Coha
• Name: phenylalanine hydroxylase; endonuclease-mediated mutation 1, Cary O Harding
• MGI ID: MGI:8345745
• Synonyms: Pah^deltaexon1
• Gene: Pah Location: Chr10:87357657-87419998 bp, + strand Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
• Alliance: Pah^em1Coha page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: CRISPR/Cas9 mediated recombination using a guide RNA in the 5 UTR and one in the intervening sequence 1 generated a 258 bp deletion spanning exon 1. Western blot analysis and immunohistochemistry confirmed absence of protein in homozygous liver. (J:380540)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:380540 Richards DY, et al., A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab. 2020 Nov;131(3):306-315
• All: 2 reference(s)