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Prnptm2Lnq
Targeted Allele Detail
Nomenclature
Symbol: Prnptm2Lnq
Name: prion protein; targeted mutation 2, Susan Lindquist
MGI ID: MGI:4412099
Synonyms: FF1, PrP3F4FFI
Gene: Prnp  Location: Chr2:131909928-131938429 bp, + strand  Genetic Position: Chr2, 64.07 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:154937
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted
Mutation:    Insertion
 
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 (D177N) mimicks the mutation associated with human fatal familial insominia. Protein expression levels in the brains of homozygous mice are reduced compared to controls. (J:154937)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  84 strains or lines available
References
Original:  J:154937 Jackson WS, et al., Spontaneous generation of prion infectivity in fatal familial insomnia knockin mice. Neuron. 2009 Aug 27;63(4):438-50
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory