| Primary Identifier | MGI:7860793 | Allele Type | Endonuclease-mediated |
| Attribute String | Inserted expressed sequence | Gene | Prnp |
| Transmission | Germline | Strain of Origin | (C57BL/6 x 129S4/SvJae)F1 |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | 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. |
