Strictly co-isogenic C57BL/6J-Prnp−/− mice: A rigorous resource for prion science

نویسندگان

  • Mario Nuvolone
  • Mario Hermann
  • Silvia Sorce
  • Giancarlo Russo
  • Cinzia Tiberi
  • Petra Schwarz
  • Eric Minikel
  • Despina Sanoudou
  • Pawel Pelczar
  • Adriano Aguzzi
چکیده

Although its involvement in prion replication and neurotoxicity during transmissible spongiform encephalopathies is undisputed, the physiological role of the cellular prion protein (PrP(C)) remains enigmatic. A plethora of functions have been ascribed to PrP(C) based on phenotypes of Prnp(-/-) mice. However, all currently available Prnp(-/-) lines were generated in embryonic stem cells from the 129 strain of the laboratory mouse and mostly crossed to non-129 strains. Therefore, Prnp-linked loci polymorphic between 129 and the backcrossing strain resulted in systematic genetic confounders and led to erroneous conclusions. We used TALEN-mediated genome editing in fertilized mouse oocytes to create the Zurich-3 (ZH3) Prnp-ablated allele on a pure C57BL/6J genetic background. Genomic, transcriptional, and phenotypic characterization of Prnp(ZH3/ZH3) mice failed to identify phenotypes previously described in non-co-isogenic Prnp(-/-) mice. However, aged Prnp(ZH3/ZH3) mice developed a chronic demyelinating peripheral neuropathy, confirming the crucial involvement of PrP(C) in peripheral myelin maintenance. This new line represents a rigorous genetic resource for studying the role of PrP(C) in physiology and disease.

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عنوان ژورنال:

دوره 213  شماره 

صفحات  -

تاریخ انتشار 2016