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Pkd1tm1Som
Targeted Allele Detail
Summary
Symbol: Pkd1tm1Som
Name: polycystin 1, transient receptor potential channel interacting; targeted mutation 1, Stefan Somlo
MGI ID: MGI:3793793
Gene: Pkd1  Location: Chr17:24768808-24815482 bp, + strand  Genetic Position: Chr17, 12.4 cM
Alliance: Pkd1tm1Som page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:78422
Parent Cell Line:  WW6 (ES Cell)
Strain of Origin:  STOCK 129/Sv and C57BL/6J and SJL
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsA neo cassette was inserted immediately downstream of the initiation methionine codon. The absence of transcript was confirmed by RT-PCR on E13.5 kidney extracts. (J:78422)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 4 assay results
In Structures Affected by this Mutation: 5 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:  153 strains or lines available
References
Original:  J:78422 Wu G, et al., Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease. Hum Mol Genet. 2002 Aug 1;11(16):1845-54
All:  9 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
03/12/2024
MGI 6.23
The Jackson Laboratory