Aqp2^F204V
Chemically induced Allele Detail

Summary

• Symbol: Aqp2^F204V
• Name: aquaporin 2; Phe204Val
• MGI ID: MGI:3616876
• Synonyms: Aqp2^ndi
• Gene: Aqp2 Location: Chr15:99476937-99482426 bp, + strand Genetic Position: Chr15, 56.13 cM
• Alliance: Aqp2^F204V page

Severe hydronephrosis and dilatation of the renal pelvis with blunting of the papilla in Aqp2^F204V/Aqp2^F204V mice

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

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 17 strains or lines available

References

• 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)