Prnp^tm2Lnq
Targeted Allele Detail

Summary

• Symbol: Prnp^tm2Lnq
• Name: prion protein; targeted mutation 2, Susan Lindquist
• MGI ID: MGI:4412099
• Synonyms: FF1, PrP^3F4FFI
• Gene: Prnp Location: Chr2:131751848-131780349 bp, + strand Genetic Position: Chr2, 64.07 cM
• Alliance: Prnp^tm2Lnq page

Reactive gliosis in Prnp^tm3Lnq/Prnp^tm3Lnq (CJD) brain and neurodegeneration and dilated ventricles in Prnp^tm2Lnq/Prnp^tm2Lnq (FFI) brain

Show the 4 phenotype image(s) involving this allele.

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 details: The 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)

Schematic of the sequence differences in Prnp^tm2Lnq and Prnp^tm3Lnq alleles

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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: 150 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)