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Targeted Allele Detail
Symbol: Prnptm3Lnq
Name: prion protein; targeted mutation 3, Susan Lindquist
MGI ID: MGI:5546407
Synonyms: CJD
Gene: Prnp  Location: Chr2:131909928-131938429 bp, + strand  Genetic Position: Chr2, 64.07 cM
Reactive gliosis in Prnptm3Lnq/Prnptm3Lnq (CJD) brain and neurodegeneration and dilated ventricles in Prnptm2Lnq/Prnptm2Lnq (FFI) brain

Show the 6 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:200974
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe third exon was replaced with an HPRT mini gene that was then replaced with a representative sequence containing two amino acid substitutions found in the human sequence (L108M and V111M). These substitutions allow for transmission barrier against mouse scrapies and immunoreactivity to the 3F4 antibody. A third mutation (E199K) mimics the mutation associated with human Creutzfeldt Jakob disease. Protein expression levels in the brains of homozygous mice are similar to controls. (J:200974)
Schematic of the sequence differences in Prnptm2Lnq and Prnptm3Lnq alleles
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
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:  95 strains or lines available
Original:  J:200974 Jackson WS, et al., Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases. Proc Natl Acad Sci U S A. 2013 Sep 3;110(36):14759-64
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory