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Tg(Pnkd*A7V*A9V,-DsRed)671Ljp
Transgene Detail
Nomenclature
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  
Transgene
origin
Strain of Origin:  (C57BL/6 x SJL)F1
Transgene
description
Transgene Type:    Transgenic (Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/17/2015
MGI 5.21
The Jackson Laboratory