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| Nomenclature |
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Symbol:
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Pkd1tm1Jzh
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Name:
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polycystic kidney disease 1 homolog;
targeted mutation 1, Jing Zhou
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MGI ID: |
MGI:1857562 |
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Synonyms: |
del34, Pkd1-, Pkd1del34 |
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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:43193
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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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: Exon 34 was replaced with a neomycin cassette, resulting in expression of a truncated protein. This mutation mimics a known mutation in humans. (J:43193)
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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:43193
Lu W et al.,
"Perinatal lethality with kidney and pancreas defects in mice with a targetted Pkd1 mutation."
Nat Genet 1997 Oct;17(2):179-81
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All: |
10 reference(s)
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Analysis Tools
