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Allele : Tg(Prnp-ATXN7*92Q*D266N)1239Als transgene insertion 1239, Albert R La Spada

Primary Identifier  MGI:5705125 Allele Type  Transgenic
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tg(Prnp-ATXN7*92Q*D266N)1239Als
Strain of Origin  (C57BL/6J x C3H/HeJ)F1 Is Recombinase  false
Is Wild Type  false
molecularNote  The coding region of the human gene containing 92 CAG repeats is under the control of the murine prion protein promoter. In addition, the aspartic acid residue at amino acid position 266 was mutated to an asparagine (D266N). This mutation prevents the cleavage of the ataxin 7 protein by caspase 7. N-terminal FLAG and C-terminal c-myc epitope tags were also added. Western blot analysis confirmed the expression of the full-length protein in the cerebellum and retina.
  • mutations:
  • Insertion
  • synonyms:
  • D266N,
  • D266N
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1 Feature

Genome

1 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories