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Targeted Allele Detail
Symbol: Pkhd1tm1Cjwa
Name: polycystic kidney and hepatic disease 1; targeted mutation 1, Christopher J Ward
MGI ID: MGI:3814174
Synonyms: Pkhd1del2
Gene: Pkhd1  Location: Chr1:20057779-20618064 bp, - strand  Genetic Position: Chr1, 6.27 cM, cytoband A2-A5
Germline Transmission:  Earliest citation of germline transmission: J:140302
Parent Cell Line:  TL1/TL-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA floxed neo cassette replaced exon 2 with a floxed neo cassette. The neo cassette was then removed via in vivo Cre mediated recombination. RT-PCR detected a transcript in mutants that skips exon 2 using the splice donor of exon 1 and the splice acceptor of exon 3. (J:140302)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pkhd1 Mutation:  9 strains or lines available
Original:  J:140302 Woollard JR, et al., A mouse model of autosomal recessive polycystic kidney disease with biliary duct and proximal tubule dilatation. Kidney Int. 2007 Aug;72(3):328-36
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.01
The Jackson Laboratory