Pkd1^tm1Rsa
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm1Rsa
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Richard Sandford
• MGI ID: MGI:2152589
• Synonyms: Pkd1^{del17-21betageo}, Pkd1^{del17-21betageo}-
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm1Rsa page

Abnormal skeletal development in Pkd1^tm1Rsa/Pkd1^tm1Rsa mice

Show the 3 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:72238
• Parent Cell Line: AK7 (ES Cell)
• Strain of Origin: 129S4/SvJaeSor

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Disruption caused by insertion of vector
• Mutation details: A promoterless IRES-LacZ-neomycin resistance cassette containing a 5' En-2 intron and splice acceptor site replaced exons 17-21. Northern analysis of homozygous mutant E12.5 embryos using an exon 15 probe detected a 12.5kb fusion transcript, and did not detect the wild-type transcript. Western analysis using an anti-beta-galactosidase antibody detected the predicted 146kDa beta-galactosidase-neomycin fusion protein in homozygous mutant embryos. (J:72238)

Disease models

Expression

In Mice Carrying this Mutation:	50 assay results
In Structures Affected by this Mutation:	12 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:72238 Boulter C, et al., Cardiovascular, skeletal, and renal defects in mice with a targeted disruption of the Pkd1 gene. Proc Natl Acad Sci U S A. 2001 Oct 9;98(21):12174-9
• All: 3 reference(s)