A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene

A novel mouse model for X-linked Alport syndrome induced by splicing mutation in the Col4a5 gene

Abstract Alport syndrome is a hereditary kidney disease with significant variations in onset and prognosis. While 80–85% of cases are due to pathogenic variants in the COL4A5 gene, there is a notable lack of mouse models with Col4a5 mutations for basic research. Our research presents an 8-year-old c...

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Bibliographic Details
Main Authors: Zhitao Ye, Di Lu, Shumin Zhou, Guanyu Li, Lili Long, Jiayi Zhang, Ming Liu, Xia Gao
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Scientific Reports
Subjects:
X-linked Alport syndrome
Mouse model
Col4a5 gene
Immune cell infiltration
Splicing mutation
Online Access:https://doi.org/10.1038/s41598-025-01663-2
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