Tg(Prnp-ATXN7*92Q*D266N)1239Als
Transgene Detail

Summary

• Symbol: Tg(Prnp-ATXN7*92Q*D266N)1239Als
• Name: transgene insertion 1239, Albert R La Spada
• MGI ID: MGI:5705125
• Synonyms: D266N
• Transgene: Tg(Prnp-ATXN7*92Q*D266N)1239Als Location: unknown
• Alliance: Tg(Prnp-ATXN7*92Q*D266N)1239Als page

Transgene origin

• Strain of Origin: (C57BL/6J x C3H/HeJ)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Prnp-ATXN7*92Q*D266N)1239Als expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ATXN7 (6314)

  Atxn7

  (MGI:2179277)

• Mutation details: 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. (J:222402)

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

References

• Original: J:222402 Guyenet SJ, et al., Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction. Hum Mol Genet. 2015 Jul 15;24(14):3908-17
• All: 1 reference(s)