Prnp^{em3.1(Prnp*E200K)Jwat}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prnp^{em3.1(Prnp*E200K)Jwat}
• Name: prion protein; endonuclease-mediated mutation 3.1, Joel C Watts
• MGI ID: MGI:7860794
• Synonyms: kiBVI^E200K
• Gene: Prnp Location: Chr2:131751848-131780349 bp, + strand Genetic Position: Chr2, 64.07 cM
• Alliance: Prnp^{em3.1(Prnp*E200K)Jwat} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:361333
• Parent Cell Line: v6.5 (ES Cell)
• Strain of Origin: (C57BL/6 x 129S4/SvJae)F1

Mutation description

• Allele Type: Endonuclease-mediated (Inserted expressed sequence)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The open reading frame, which is located entirely within the third exon, was replaced with the bank vole prion gene containing isoleucine at polymorphic codon 109 (I109), a glutamate to lysine substitution at position 200 (p.E200K) and an FRT-flanked neomycin selection cassette via CRISPR/Cas9 technology. Flp-mediated recombination removed the neomycin selection cassette. The E200K mutation causes familial Creutzfeldt-Jakob disease when paired with either methionine or valine at polymorphic codon 129 in human Prnp. (J:361333)

Disease models

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: 142 strains or lines available

References

• Original: J:361333 Mehra S, et al., Convergent generation of atypical prions in knockin mouse models of genetic prion disease. J Clin Invest. 2024 Aug 1;134(15)
• All: 1 reference(s)