Pah^em1Skym
Endonuclease-mediated Allele Detail

Summary

• Symbol: Pah^em1Skym
• Name: phenylalanine hydroxylase; endonuclease-mediated mutation 1, Sirkka Kyostio-Moore
• MGI ID: MGI:6715267
• Gene: Pah Location: Chr10:87357657-87419998 bp, + strand Genetic Position: Chr10, 43.64 cM, cytoband C2-D1
• Alliance: Pah^em1Skym page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a G to T change (in codon 7; GAG to TAG) to create a stop codon in exon 1 and a premature transcript. Two founders (#5329 and 5349) were generated but line 5349 was selected for analysis. qRT-PCR and Western blot confirmed the absence of transcript and protein in the liver. (J:305392)

Disease models

Expression

In Structures Affected by this Mutation:

8 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: 49 strains or lines available

References

• Original: J:305392 Singh K, et al., CRISPR/Cas9 generated knockout mice lacking phenylalanine hydroxylase protein as a novel preclinical model for human phenylketonuria. Sci Rep. 2021 Mar 31;11(1):7254
• All: 1 reference(s)