|  Help  |  About  |  Contact Us

Allele : Prnp<em3.1(Prnp*E200K)Jwat> prion protein; endonuclease-mediated mutation 3.1, Joel C Watts

Primary Identifier  MGI:7860794 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), a glutamate to lysine substitution at position 200 (p.E200K) and an FRT-flanked neomycin selection cassette via CRISPR/Cas9 technology. Flp-mediated recombination removed the neomycin selection cassette. The E200K mutation causes familial Creutzfeldt-Jakob disease when paired with either methionine or valine at polymorphic codon 129 in human Prnp.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • kiBVI<E200K>,
  • kiBVI<E200K>
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories