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Targeted Allele Detail
Symbol: Pkd1tm2Jzh
Name: polycystin 1, transient receptor poteintial channel interacting; targeted mutation 2, Jing Zhou
MGI ID: MGI:2182840
Synonyms: null, Pkd1null
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Germline Transmission:  Earliest citation of germline transmission: J:72627
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
Mutation detailsThe 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 47 assay results
In Structures Affected by this Mutation: 10 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: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)

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