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Updated: Mar 28, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
[From phenotype to genotype: a glimpse behind the scenes of an unending story]
Herbert Schuster1, Sylvia Bähring1, Thomas F Wienker2
1Institut Experimental and Clinical Research Center (ECRC), eine gemeinsame Einrichtung des Max-Delbrück-Centrums für Molekulare Medizin (MDC) und der Charité Medizinischen Fakultät, Berlin.
Abstract:
Mendelian conditions direct attention at basic mechanisms. In the 1990's DNA sequencing allowed elucidating such conditions. We embarked on an unexpected adventure to study a monogenic autosomal-dominant form of hypertension causing also a specific form of short fingers. The gene locus caused a 50 mmHg increase in blood pressure at age of 50. Our clinically based group stumbled to the finish line after 20 years of study. We remained together and proudly persevered. Our findings could be relevant for essential hypertension.
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