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Chemically induced Allele Detail
Symbol: Aqp2F204V
Name: aquaporin 2; Phe204Val
MGI ID: MGI:3616876
Synonyms: Aqp2ndi
Gene: Aqp2  Location: Chr15:99579056-99584545 bp, + strand  Genetic Position: Chr15, 56.13 cM
Severe hydronephrosis and dilatation of the renal pelvis with blunting of the papilla in Aqp2F204V/Aqp2F204V mice

Show the 1 phenotype image(s) involving this allele.

Strain of Origin:  C57BL/6
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
Mutation detailsA T to G transversion in the coding region of the gene led to a phenylalanine to valine substitution at postion 204 of the protein (p.F204V). 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)
Inheritance:    Recessive
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Aqp2 Mutation:  13 strains or lines available
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.14
The Jackson Laboratory