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Standardized, systemic phenotypic analysis of Slc12a1I299F mutant mice

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 Slc12a1I299Fexhibiting kidney defects highly similar to the late-onset manifestation of this...

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Main Authors: Kemter, Elisabeth Gabriele (Author) , Rathkolb, Birgit (Author) , Becker, Lore (Author) , Bolle, Ines (Author) , Busch, Dirk H. (Author) , Dalke, Claudia (Author) , Elvert, Ralf (Author) , Favor, Jack (Author) , Graw, Jochen (Author) , Hans, Wolfgang (Author) , Ivandic, Boris (Author) , Kalaydjiev, Svetoslav (Author) , Klopstock, Thomas (Author) , Rácz, Ildikó (Author) , Rozman, Jan (Author) , Schrewe, Anja (Author) , Schulz, Holger (Author) , Zimmer, Andreas (Author) , Fuchs, Helmut (Author) , Gailus-Durner, Valérie (Author) , de Angelis, Martin Hrabé (Author) , Wolf, Eckhard (Author) , Aigner, Bernhard (Author)
Format: Article (Journal)
Language:English
Published: 2 August 2014
In: Journal of biomedical science
Year: 2014, Volume: 21, Issue: 1
ISSN:1423-0127
DOI:10.1186/s12929-014-0068-0
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s12929-014-0068-0
Verlag, lizenzpflichtig, Volltext: https://jbiomedsci.biomedcentral.com/articles/10.1186/s12929-014-0068-0
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Author Notes:Elisabeth Kemter, Birgit Rathkolb, Lore Becker, Ines Bolle, Dirk H. Busch, Claudia Dalke, Ralf Elvert, Jack Favor, Jochen Graw, Wolfgang Hans, Boris Ivandic, Svetoslav Kalaydjiev, Thomas Klopstock, Ildikó Rácz, Jan Rozman, Anja Schrewe, Holger Schulz, Andreas Zimmer, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabé de Angelis, Eckhard Wolf and Bernhard Aigner
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Summary: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 Slc12a1I299Fexhibiting 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 in the kidney, NKCC2 has been also shown to be expressed in other tissues in rodents i.e. the gastrointestinal tract, pancreatic beta cells, and specific compartments of the ear, nasal tissue and eye.
Item Description:I299F ist im Text hochgestellt
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Physical Description:Online Resource
ISSN:1423-0127
DOI:10.1186/s12929-014-0068-0

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