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)

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: 52 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)