Genetic characterization of a mouse line with primary aldosteronism

  1. A Spyroglou1,*
  1. 1Medizinische Klinik und Poliklinik IV, Endocrine Research Unit, Klinikum der Universität München, LMU, Munich, Germany
  2. 2Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Institute of Experimental Genetics and German Mouse Clinic, Neuherberg, Germany
  3. 3Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Research Unit Comparative Medicine, Neuherberg, Germany
  4. 4Member of German Center for Diabetes Research (DZD), Neuherberg, Germany
  5. 5Ludwig-Maximilians-Universität München, Chair for Molecular Animal Breeding and Biotechnology, Gene Center of the München, Germany
  6. 6Lehrstuhl für Experimentelle Genetik, Technische Universität München, Freising-Weihenstephan, Germany
  1. Correspondence should be addressed to F Beuschlein; Email: felix.beuschlein{at}med.uni-muenchen.de
  1. Figure 1

    Pedigree of the investigated mouse line with primary aldosteronism. Increased aldosterone values (+3 s.d. from the mean) observed in five successive generations, in animals of both genders. Affected animals 33%, males:females ratio 4:3. Squares: males, circles: females, black: affected animals.

  2. Figure 2

    (A) Aldosterone values in affected mice (n = 16), significantly higher than that in their unaffected littermates (n = 17, P < 0.001). No differences in creatinine and urea values in affected and unaffected animals (B, C). No differences in the expression levels of the steroidogenic enzymes leading to aldosterone production (D, E, F, G, H, and I).

  3. Figure 3

    Aldosterone values in wild-type or mutant animals (n = 126) for each of the following genes: Sspo, Dguok, Hoxaas2, Clstn3, Atm, Tipin and Mapk6. Values are expressed as % of the mean aldosterone levels of wild-type male or female mice, respectively.

  4. Figure 4

    Expression levels of steroidogenic enzymes involved in aldosterone biosynthesis in wild-type or mutant animals (n = 33) for each of the following genes: Sspo, Dguok, Hoxaas2, Clstn3, Atm, Tipin and Mapk6. Values are relatively expressed to the housekeeping gene Gapdh.

  5. Figure 5

    Histological examination of the adrenal glands of wild-type animals and mutants for all four following genes: Sspo, Dguok, Hoxaas2 and Clstn3. Cell count of CYP11B2 positively stained cells per standardized area in the adrenal cortex of wild-type and mutant animals to the total cell count per area (A). Representative immunohistochemical staining of the adrenal cortex of wild-type (B) and mutant (C) mice. Ratios of CYP11B2 positively stained cells to the total cell count in the outer (D), middle (E) and inner (F) area of the adrenal cortex of wild-type and mutant mice (*** for P < 0.001).

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