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Targeted Allele Detail
Symbol: Pkhd1tm1Gwu
Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Guanqing Wu
MGI ID: MGI:3826780
Gene: Pkhd1  Location: Chr1:20057779-20618064 bp, - strand  Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
Cystic kidneys and other phenotypes in Pkd2tm1Gwu/Pkd2tm1Gwu and Pkhd1tm1Gwu/Pkhd1tm1Gwu mice

Show the 1 phenotype image(s) involving this allele.

Germline Transmission:  Earliest citation of germline transmission: J:143394
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExon 15 and 16 was replaced with a GFP/neo cassette inserted into exon 15. The absence of protein expression was confirmed by western blot analysis on adult kidney extracts. (J:143394)
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Disease models
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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:  9 strains or lines available
Original:  J:143394 Kim I, et al., Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol. 2008 Mar;19(3):455-68
All:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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