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| Nomenclature |
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Symbol:
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Pkhd1tm1Rbu
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Name:
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polycystic kidney and hepatic disease 1;
targeted mutation 1, Reinhard Buettner
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MGI ID: |
MGI:3664756 |
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Synonyms: |
Pkhd1- |
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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:112509
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Disruption caused by insertion of vector |
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Mutation details: A lacZ-pgk-neo disrupted exon 40. Mutants expressed a protein resulting from transcrtipts completely skipping exon 40 including the lacZ. Amino acids 2160-2223 were deleted in-frame. No lacZ staining is seen in homozygous or heterozygous mice. (J:112509)
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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:112509
Moser M et al.,
"A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)."
Hepatology 2005 May;41(5):1113-21
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All: |
1 reference(s)
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Analysis Tools
