Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies

• DOI: 10.1152/ajprenal.00412.2023
• Publication Date: 2024-03-14T08:01:38Z
• Authors: Florian Buerger; Lea M. Merz; Ken Saida; Seyoung Yu; Daanya Salmanullah; Katharina Lemberg; Nils D. Mertens; Bshara Mansour; Caroline M. Kolve...; Kirollos Yousef; Selina Hölzel; Alina Braun; Gijs A. C. Franken; Kevin A. Goncalves; Andrew Steinsapir; Nicole Endlich; Ronen Schneider; Shirlee Shril; Friedhelm Hildebr...
• Keywords: Mice, Knockout; Male; 0303 health sciences; Nephrotic Syndrome; Podocytes; Genetic Vectors; Membrane Proteins; Genetic Therapy; Disease Models, Animal; Mice; 03 medical and health sciences; Phenotype; Animals; Female

To evaluate potential, even subtle molecular, therapeutic effects of gene replacement therapy (GRT) in a mouse model, prior rigorous quantifiable and reproducible disease phenotyping is necessary. Here, we, therefore, describe such a phenotyping effort in nephrin ( Nphs1) knockout mice to establish the basis for GRT for congenital nephrotic syndrome. We believe that our findings set an important basis for upcoming/ongoing gene therapy approaches in the field of nephrology, especially for monogenic nephrotic syndrome.