Search Criteria: Research Area is "Developmental Biology Research: Internal/Organ Defects (hydronephrosis)"
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 005921 | C57BL/6J-Aqp2F204V/J | Repository-Cryopreserved |
| Mice homozygous for this mutation are viable with normal body size and lifespan. Homozygotes are fertile, but females usually die during labor. The predicted valine for phenylalanine substitution at amino acid 204 of the mutant protein (F204V) leads to an enrichment in kidney cells of a normally short-lived, intermediately glycosylated 31 kDa isoform and to a reduction in the mature, glycosylated protein level. The mutant AQP2F204V protein is mis-localized in kidney collecting duct cells, and fails to translocate to the apical cell surface in response to desmopressin. Homozygous mice exhibit excessive water consumption and urination, normal plasma glucose levels, and no glucose in the urine. Mutant mice are unable to concentrate urine and exhibit severe hydronephrosis. The presence of some mature, glycosylated protein and a defective, but not completely absent, desmopressin response in homozygous mutant mice likely permits their survival. Heterozygous mice are viable and fer
..... For more information please see the full descriiption on the strain data sheet | ||
| 000530 | C57BL/6J-Aqp2cph/J | Repository-Cryopreserved |
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