About   Help   FAQ
Pnkdtm1Ljp
Targeted Allele Detail
Nomenclature
Symbol: Pnkdtm1Ljp
Name: paroxysmal nonkinesiogenic dyskinesia; targeted mutation 1, Louis J Ptacek
MGI ID: MGI:5006973
Gene: Pnkd  Location: Chr1:74284930-74353694 bp, + strand  Genetic Position: Chr1, 38.53 cM, cytoband C3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:172066
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Intragenic deletion
 
Mutation detailsExons 5 through 9 were deleted. The absence of transcript expression was confirmed by quantitative RT-PCR analysis. (J:172066)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
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
Carrying any Pnkd Mutation:  49 strains or lines available
Notes
Two founder lines, 534 and 389, are being maintained in the lab of origin.
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:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
01/21/2020
MGI 6.14
The Jackson Laboratory