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Targeted Allele Detail
Symbol: Pkd1tm1Rsa
Name: polycystin 1, transient receptor poteintial channel interacting; targeted mutation 1, Richard Sandford
MGI ID: MGI:2152589
Synonyms: Pkd1del17-21betageo, Pkd1del17-21betageo-
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Abnormal skeletal development in Pkd1tm1Rsa/Pkd1tm1Rsa mice

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

Germline Transmission:  Earliest citation of germline transmission: J:72238
Parent Cell Line:  AK7 (ES Cell)
Strain of Origin:  129S4/SvJaeSor
Allele Type:    Targeted (Null/knockout, Reporter)
Mutation:    Disruption caused by insertion of vector
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 50 assay results
In Structures Affected by this Mutation: 15 anatomical structures
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:  99 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory