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| Nomenclature |
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Symbol:
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Pkhd1tm1Cjwa
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Name:
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polycystic kidney and hepatic disease 1;
targeted mutation 1, Christopher J Ward
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MGI ID: |
MGI:3814174 |
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Synonyms: |
Pkhd1del2 |
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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:140302
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Parent Cell Line:
| TL1/TL-1 (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 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)
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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: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
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All: |
2 reference(s)
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Analysis Tools
