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| Nomenclature |
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Symbol:
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Pkhd1tm2Cjwa
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Name:
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polycystic kidney and hepatic disease 1;
targeted mutation 2, Christopher J Ward
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MGI ID: |
MGI:5438324 |
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Synonyms: |
Pkhd1LSL(-) |
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Gene:
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Pkhd1
Location:
Chr1:20057779-20618064 bp, - strand
Genetic Position: Chr1,
6.27 cM, cytoband A2-A5
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:187735
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutation: | |
Insertion |
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Mutation details: The 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
1 reference(s)
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