Pnkd<tm1Ljp> Targeted Allele Detail MGI Mouse (MGI:5006973)

Pnkd^tm1Ljp
Targeted Allele Detail

Summary

Symbol:	Pnkd^tm1Ljp
Name:	paroxysmal nonkinesiogenic dyskinesia; targeted mutation 1, Louis J Ptacek
MGI ID:	MGI:5006973
Gene:	Pnkd Location: Chr1:74324089-74392853 bp, + strand Genetic Position: Chr1, 38.53 cM, cytoband C3
Alliance:	Pnkd^tm1Ljp page

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 details: Exons 5 through 9 were deleted. The absence of transcript expression was confirmed by quantitative RT-PCR analysis. (J:172066)

Phenotypes

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:	53 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:	4 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)
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