User: Guest  Login
Document type:
Journal Article; Research Support, Non-U.S. Gov't 
Author(s):
Kemter, Elisabeth; Rathkolb, Birgit; Becker, Lore; Bolle, Ines; Busch, Dirk H; Dalke, Claudia; Elvert, Ralf; Favor, Jack; Graw, Jochen; Hans, Wolfgang; Ivandic, Boris; Kalaydjiev, Svetoslav; Klopstock, Thomas; Racz, Ildiko; Rozman, Jan; Schrewe, Anja; Schulz, Holger; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabé de Angelis, Martin; Wolf, Eckhard; Aigner, Bernhard 
Title:
Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice. 
Abstract:
Type I Bartter syndrome is a recessive human nephropathy caused by loss-of-function mutations in the SLC12A1 gene coding for the Na+-K+-2Cl- cotransporter NKCC2. We recently established the mutant mouse line Slc12a1I299F exhibiting kidney defects highly similar to the late-onset manifestation of this hereditary human disease. Besides the kidney defects, low blood pressure and osteopenia were revealed in the homozygous mutant mice which were also described in humans. Beside its strong expression...    »
 
Journal title abbreviation:
J Biomed Sci 
Year:
2014 
Journal volume:
21 
Pages contribution:
68 
Language:
eng 
Print-ISSN:
1021-7770 
TUM Institution:
Institut für Medizinische Mikrobiologie, Immunologie und Hygiene