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Pkd1tm1Shh
Targeted Allele Detail
Nomenclature
Symbol: Pkd1tm1Shh
Name: polycystin 1, transient receptor poteintial channel interacting; targeted mutation 1, Shigeo Horie
MGI ID: MGI:2183431
Synonyms: Pkd1-, Pkd1del2, Pkd1del2-6
Gene: Pkd1  Location: Chr17:24549950-24596514 bp, + strand  Genetic Position: Chr17, 12.4 cM
Pkd1tm1.1Pcha/Pkd1tm1Shh mice show early-onset and rapidly progressive cystic disease

Show the 8 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:77927
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsThe gene was disrupted by replacement of exons 2-5 and part of exon 6 with a neomycin resistance cassette via homologous recombination. The gene targeting even results in a frameshift. Absence of gene expression in E12.5 embyros was confirmed by Western blot analysis. (J:77927)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 11 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
References
Original:  J:77927 Muto S, et al., Pioglitazone improves the phenotype and molecular defects of a targeted Pkd1 mutant. Hum Mol Genet. 2002 Jul 15;11(15):1731-42
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
08/13/2019
MGI 6.14
The Jackson Laboratory