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| Nomenclature |
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Symbol:
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Pkd1tm1Rsa
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Name:
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polycystic kidney disease 1 homolog;
targeted mutation 1, Richard Sandford
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MGI ID: |
MGI:2152589 |
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Synonyms: |
Pkd1del17-21betageo, Pkd1del17-21betageo- |
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Gene:
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Pkd1
Location:
Chr17:24549950-24596514 bp, + strand
Genetic Position: Chr17,
12.4 cM
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Abnormal skeletal development in Pkd1tm1Rsa/Pkd1tm1Rsa mice
Show the 3 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:72238
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Parent Cell Line:
| AK7 (ES Cell) |
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Strain of Origin:
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129S4/SvJaeSor
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutation: | |
Disruption caused by insertion of vector |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Pkd1 Mutation:
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6 strains or lines available |
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| References |
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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
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All: |
2 reference(s)
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Analysis Tools
