Pkd1^tm1Shh
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1Shh
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Shigeo Horie
• MGI ID: MGI:2183431
• Synonyms: Pkd1-, Pkd1^del2, Pkd1^del2-6
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1Shh page

Pkd1^tm1.1Pcha/Pkd1^tm1Shh mice show early-onset and rapidly progressive cystic disease

Show the 8 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:77927
• Parent Cell Line: E14 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The gene was disrupted by replacement of exons 2-5 and part of exon 6 with a neomycin resistance cassette via homologous recombination. The gene targeting even results in a frameshift. Absence of gene expression in E12.5 embyros was confirmed by Western blot analysis. (J:77927)

Disease models

Expression

In Mice Carrying this Mutation:	13 assay results
In Structures Affected by this Mutation:	7 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:77927 Muto S, et al., Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant. Hum Mol Genet. 2002 Jul 15;11(15):1731-42
• All: 10 reference(s)