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Pkhd1tm1Sswi
Targeted Allele Detail
Nomenclature
Symbol: Pkhd1tm1Sswi
Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Scott S Williams
MGI ID: MGI:5430994
Synonyms: Pkhd1lacZ
Gene: Pkhd1  Location: Chr1:20057779-20618064 bp, - strand  Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:186064
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExons 1 through 3 were replaced with a lacZ gene with a nuclear localization and a floxed neo cassette. RT-PCR confirmed the absence of transcript expression with the deleted region in kidneys. (J:186064)
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: 8 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 Pkhd1 Mutation:  150 strains or lines available
References
Original:  J:186064 Williams SS, et al., Kidney cysts, pancreatic cysts, and biliary disease in a mouse model of autosomal recessive polycystic kidney disease. Pediatr Nephrol. 2008 May;23(5):733-41
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/10/2018
MGI 6.12
The Jackson Laboratory