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| Nomenclature |
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Symbol:
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Pkd1tm1Djmp
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Name:
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polycystic kidney disease 1 homolog;
targeted mutation 1, Dorien JM Peters
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MGI ID: |
MGI:3521583 |
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Synonyms: |
Pkd1neolox, Pkd1nl |
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Gene:
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Pkd1
Location:
Chr17:24549950-24596514 bp, + strand
Genetic Position: Chr17,
12.4 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:94582
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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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: This is a hypomorphic allele created by the insertion of a loxP-flanked neo into intron 1 and a third loxP site into intron 11. The neo causes aberrant splicing of intron 1, yielding 13-20% normally spliced transcripts in the majority of mutant mice. (J:94582)
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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 Pkd1 Mutation:
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6 strains or lines available |
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| References |
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Original: |
J:94582
Lantinga-van Leeuwen IS et al.,
"Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease."
Hum Mol Genet 2004 Dec 15;13(24):3069-77
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All: |
6 reference(s)
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Analysis Tools
