Prnp^em1Chjs
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prnp^em1Chjs
• Name: prion protein; endonuclease-mediated mutation 1, Christina J Sigurdson
• MGI ID: MGI:7548887
• Synonyms: Prnp^180Q/196Q
• Gene: Prnp Location: Chr2:131751848-131780349 bp, + strand Genetic Position: Chr2, 64.07 cM
• Alliance: Prnp^em1Chjs page

Mutation origin

• Strain of Origin: (C57BL/6 x SJL)F1 x C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Not Applicable)
• Mutation: Nucleotide substitutions
• Mutation details: Asparagine codons 180 (AAT) and 196 (AAC) in exon 3 were changed to glutamine (p.N180Q, p.N196Q) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutations block glycosylation of the affected residues in the encoded peptide. (J:297826)

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 Prnp Mutation: 143 strains or lines available

References

• Original: J:297826 Sevillano AM, et al., Prion protein glycans reduce intracerebral fibril formation and spongiosis in prion disease. J Clin Invest. 2020 Mar 2;130(3):1350-1362
• All: 1 reference(s)