Pkd1^tm2Jzh
Targeted Allele Detail

Summary

• Symbol: Pkd1^tm2Jzh
• Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 2, Jing Zhou
• MGI ID: MGI:2182840
• Synonyms: null, Pkd1^null
• Gene: Pkd1 Location: Chr17:24768808-24815482 bp, + strand Genetic Position: Chr17, 12.4 cM
• Alliance: Pkd1^tm2Jzh page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:72627
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• 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)

Disease models

Expression

In Mice Carrying this Mutation:	47 assay results
In Structures Affected by this Mutation:	8 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: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)