Prnp^{em2.1(Prnp*D178N)Jwat}
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prnp^{em2.1(Prnp*D178N)Jwat}
• Name: prion protein; endonuclease-mediated mutation 2.1, Joel C Watts
• MGI ID: MGI:7860793
• Synonyms: kiBVI^D178N
• Gene: Prnp Location: Chr2:131751848-131780349 bp, + strand Genetic Position: Chr2, 64.07 cM
• Alliance: Prnp^{em2.1(Prnp*D178N)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), an aspartate to asparagine substitution at position 178 (p.D178N) and an FRT-flanked neomycin selection cassette via CRISPR/Cas9 technology. Flp-mediated recombination removed the neomycin selection cassette. The D178N mutation typically causes fatal familial insomnia if it occurs in cis to M129 or familial Creutzfeldt-Jakob disease if it occurs in cis to V129 in human Prnp. The D178N-M129 haplotype can occasionally cause a Creutzfeldt-Jakob disease-like phenotype. (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)