Pkd1^tm1Djmp
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1Djmp
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Dorien JM Peters
• MGI ID: MGI:3521583
• Synonyms: Pkd1^neolox, Pkd1^nl
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1Djmp page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:94582
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutation: Insertion
• Mutation details: This is a hypomorphic allele created by the insertion of a loxP-flanked neo into intron 1 and a third loxP site into intron 11. The neo causes aberrant splicing of intron 1, yielding 13-20% normally spliced transcripts in the majority of mutant mice. (J:94582)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Pkd1 Mutation: 154 strains or lines available

References

• Original: J:94582 Lantinga-van Leeuwen IS, et al., Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet. 2004 Dec 15;13(24):3069-77
• All: 15 reference(s)