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Dokumenttyp:
journal article 
Autor(en):
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; Rácz, Ildikó; Rozman, Jan; Schrewe, Anja; Schulz, Holger; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valérie; Hrabe de Angelis, Martin; Wolf, Eckhard; Aigner, Bernhard 
Titel:
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...    »
 
Zeitschriftentitel:
J Biomed Sci 
Jahr:
2014 
Band / Volume:
21 
Seitenangaben Beitrag:
68 
Sprache:
eng 
Print-ISSN:
1021-7770 
TUM Einrichtung:
Institut für Medizinische Mikrobiologie, Immunologie und Hygiene