| First Author | Tchekneva EE | Year | 2008 |
| Journal | J Am Soc Nephrol | Volume | 19 |
| Issue | 10 | Pages | 1955-64 |
| PubMed ID | 18701606 | Mgi Jnum | J:169660 |
| Mgi Id | MGI:4941603 | Doi | 10.1681/ASN.2008030296 |
| Citation | Tchekneva EE, et al. (2008) Single amino acid substitution in aquaporin 11 causes renal failure. J Am Soc Nephrol 19(10):1955-64 |
| abstractText | A screen of recessive mutations generated by the chemical mutagen n-ethyl-n-nitrosourea (ENU) mapped a new mutant locus (5772SB) termed sudden juvenile death syndrome (sjds) to chromosome 7 in mice. These mutant mice, which exhibit severe proximal tubule injury and formation of giant vacuoles in the renal cortex, die from renal failure, a phenotype that resembles aquaporin 11 (Aqp11) knockout mice. In this report, the ENU-induced single-nucleotide variant (sjds mutation) is identified. To determine whether this variant, which causes an amino acid substitution (Cys227Ser) in the predicted E-loop region of aquaporin 11, is responsible for the sjds lethal renal phenotype, Aqp11-/sjds compound heterozygous mice were generated from Aqp11 +/sjds and Aqp11 +/- intercrosses. The compound heterozygous Aqp11 -/sjds offspring exhibited a lethal renal phenotype (renal failure by 2 wk), similar to the Aqp11 sjds/sjds and Aqp11-/- phenotypes. These results demonstrate that the identified mutation causes renal failure in Aqp11 sjds/sjds mutant mice, providing a model for better understanding of the structure and function of aquaporin 11 in renal physiology. |
