Tg(Pnkd*A7V*A9V,-DsRed)671Ljp
Transgene Detail

Summary

• Symbol: Tg(Pnkd*A7V*A9V,-DsRed)671Ljp
• Name: transgene insertion 671, Louis J Ptacek
• MGI ID: MGI:5006974
• Synonyms: mut-Tg, Tg(Pnkd*A7V*A9V)671Ljp
• Transgene: Tg(Pnkd*A7V*A9V,-DsRed)671Ljp Location: unknown
• Alliance: Tg(Pnkd*A7V*A9V,-DsRed)671Ljp page

Transgene origin

• Strain of Origin: (C57BL/6 x SJL)F1

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(Pnkd*A7V*A9V,-DsRed)671Ljp expresses 1 gene
  Transgene expresses:
  

  Organism	Expressed Gene	Note
  mouse	Pnkd (MGI:1930773)	Transgene codes for a protein with two alanine to valine mutations.

• Mutation details: The transgene contains a BAC with the nucleotide substitutions that lead to the amino acid substitutions of valine for alanine at positions 7 and 9. An IRES-DsRed was inserted into the 3'UTR. This transgene is predicted to produce only the long isoform. Lines 671, 676, and 704 were generated. (J:172066, J:192798)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available

References

• Original: J:172066 Shen Y, et al., Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. Hum Mol Genet. 2011 Jun 15;20(12):2322-32
• All: 4 reference(s)