Pkd1^tm1Jzh
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1Jzh
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Jing Zhou
• MGI ID: MGI:1857562
• Synonyms: del34, Pkd1-, Pkd1^del34
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1Jzh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:43193
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 34 was replaced with a neomycin cassette, resulting in expression of a truncated protein. This mutation mimics a known mutation in humans. (J:43193)

Disease models

Expression

In Mice Carrying this Mutation:	16 assay results 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	19 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:43193 Lu W, et al., Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation. Nat Genet. 1997 Oct;17(2):179-81
• All: 14 reference(s)