A Novel Col4a5-G814fs Knock-In Mouse Model Reveals Phenotypic Heterogeneity Among Truncating COL4A5 Mutations in X-Linked Alport Syndrome.

Abstract excerpt

Background/Objectives: X-linked Alport syndrome (XLAS) arises from pathogenic variants in COL4A5. Truncating variants are generally classified as severe, but whether clinically meaningful heterogeneity exists within this group remains unclear. This study aimed to establish a novel Col4a5 knock-in mouse model based on a clinical variant and to determine whether truncating mutation position influences disease...

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