Pkd1tm2Jzh
Targeted Allele Detail
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| Symbol: |
Pkd1tm2Jzh |
| Name: |
polycystin 1, transient receptor potential channel interacting; targeted mutation 2, Jing Zhou |
| MGI ID: |
MGI:2182840 |
| Synonyms: |
null, Pkd1null |
| Gene: |
Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
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| Alliance: |
Pkd1tm2Jzh page
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| Germline Transmission: |
Earliest citation of germline transmission:
J:72627
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| Parent Cell Line: |
J1 (ES Cell)
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| Strain of Origin: |
129S4/SvJae
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| Allele Type: |
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Targeted (Null/knockout) |
| Mutation: |
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Insertion
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Mutation details: The gene was disrupted by insertion of a PGK-neo cassette into exon 4 via homologous recombination. RT-PCR analysis of homozygous mutants detected a mutant transcript, and sequencing of the product revealed splicing of part of the PGK-neo cassette into the message resulting in a stop codon 30 bp downstream of exon 3. Northern blot analysis of E13.5 homozygous mutant embryos using cDNA probes to the 5' and 3' regions of the gene revealed a transcript similar in size to the wild-type transcript. Western blot analysis using a monoclonal antibody directed to the N-terminal region of the protein showed that no protein product was made from the mutant transcript.
(J:72627)
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Pkd1 Mutation: |
154 strains or lines available
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| Original: |
J:72627 Lu W, et al., Comparison of Pkd1-targeted mutants reveals that loss of polycystin-1 causes cystogenesis and bone defects. Hum Mol Genet. 2001 Oct 1;10(21):2385-96 |
| All: |
7 reference(s) |
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Analysis Tools
