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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 and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
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:  150 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 6.11
The Jackson Laboratory