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| Nomenclature |
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Symbol:
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Aqp2F204V
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Name:
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aquaporin 2;
Phe204Val
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MGI ID: |
MGI:3616876 |
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Synonyms: |
Aqp2ndi |
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Gene:
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Aqp2
Location:
Chr15:99579056-99584545 bp, + strand
Genetic Position: Chr15,
56.13 cM
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Kidney and histological kidney sections of an Aqp2F204V/Aqp2F204V mouse.
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Strain of Origin:
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C57BL/6
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Mutation
description |
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Allele
Type: | |
Chemically induced (ENU) |
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Mutation: | |
Single point mutation |
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Mutation details: A T to G transversion in the coding region of the gene led to a valine to phenylalanine substitution at postion 204 of the protein. The mutant protein was distributed randomly throughout collecting duct cells of the kidney rather than localized to the subapical region of collecting duct cells in
the wild-type kidney.
(J:105809)
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Inheritance: | |
Recessive |
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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:105809
Lloyd DJ et al.,
"Diabetes Insipidus in Mice with a Mutation in Aquaporin-2."
PLoS Genet 2005 Aug 19;1(2):e20
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All: |
1 reference(s)
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Analysis Tools
