Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.

ABSTRACT: Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital nephrotic syndrome of the Finnish type (CNF) (MIM# 256300) is caused by biallelic variants in the gene NPHS1, encoding nephrin, an integral component of the kidney filtration barrier. No causal treatments exist, and children inevitably require kidney replacement therapy. In preparation for gene replacement therapy (GRT) in CNF, we established a quantifiable and reproducible phenotypic assessment of the nephrin-deficient CNF mouse model: 129/Sv-Nphs1^tm1Rkl/J. We assessed the phenotypic spectrum of homozygous mice (Nphs1^tm1Rkl/Nphs1^tm1Rkl) compared to heterozygous controls (Nphs1^tm1Rkl/Nphs1^WT) by the following pa

SUBMITTER: Lemberg K 

PROVIDER: S-EPMC11237045 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature