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| Nomenclature |
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Symbol:
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Pkd1tm2Jzh
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Name:
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polycystic kidney disease 1 homolog;
targeted mutation 2, Jing Zhou
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MGI ID: |
MGI:2182840 |
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Synonyms: |
null, Pkd1null |
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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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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:72627
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
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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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: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
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All: |
5 reference(s)
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Analysis Tools
