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Targeted Allele Detail
Symbol: Pkhd1tm2Cjwa
Name: polycystic kidney and hepatic disease 1; targeted mutation 2, Christopher J Ward
MGI ID: MGI:5438324
Synonyms: Pkhd1LSL(-)
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:187735
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
Mutation detailsThe targeting vector was designed with a loxP-STOP-loxP (LSL) cassette containing a puromycin acetyltransferase gene (pac) and 4 copies of the SV40 viral transcriptional termination sequence inserted into intron 2 and two SV5-Pk epitope tags (26 amino acids long) inserted in-frame into exon 3. The LSL cassette terminates all transcripts in intron 2 generating a null allele. Northern blotting and RT-PCR analysis confirmed the absence of mRNA. (J:187735)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Pkhd1 Mutation:  164 strains or lines available
Original:  J:187735 Bakeberg JL, et al., Epitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin. J Am Soc Nephrol. 2011 Dec;22(12):2266-77
All:  1 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
MGI 6.14
The Jackson Laboratory