Mouse model of X-linked Alport syndrome with K229X mutation in the COL4A5 gene.

Abstract excerpt

X-linked Alport syndrome (XLAS) is a hereditary glomerular basement membrane (GBM) disease caused by COL4A5 mutations, leading to end-stage renal disease. With unclear pathogenesis and limited treatments, reliable animal models are urgently needed. In this study, the mutation K229X in COL4A5 detected in XLAS patients was introduced into mice model by CRISPR/Cas. The clinical manifestations and pathological...

Topics

• Animals
• Nephritis, Hereditary
• Collagen Type IV
• Disease Models, Animal
• Male
• Mice
• Mutation