Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1 ^I27N mutant mice.

ABSTRACT:

Background

Increased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models for kidney diseases on the genetic background of C3H inbred mice in the phenotype-driven Munich ENU mouse mutagenesis project. The phenotypically dominant mutant line HST014 was established and further analyzed.

Methods

Analysis of the causative mutation as well as the standardized, systemic phenotypic analysis of the mutant line was carried out.

Results

The causative mutation was detected in the potassium channel tetramerization domain containing 1 (Kctd1) gene which leads to the amino acid exchange Kctd1 ^I27N thereby affecting the functional BTB domain of the protein. This line is the first mouse model harboring a Kctd1 mutation. Kctd1

SUBMITTER: Kumar S 

PROVIDER: S-EPMC5559776 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature