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| Nomenclature |
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Symbol:
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Pkhd1tm1Gwu
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Name:
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polycystic kidney and hepatic disease 1;
targeted mutation 1, Guanqing Wu
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MGI ID: |
MGI:3826780 |
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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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Cystic kidneys and other phenotypes in Pkd2tm1Gwu/Pkd2tm1Gwu and Pkhd1tm1Gwu/Pkhd1tm1Gwu mice
Show the 1 image(s) involving this allele.
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:143394
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 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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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Pkhd1 Mutation:
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10 strains or lines available |
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| References |
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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
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All: |
3 reference(s)
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