Article
An Nphp1 knockout mouse model targeting exon 2-20 demonstrates characteristic phenotypes of human nephronophthisis.
Human molecular genetics - 27 Dec 2021
Li Dantong, Hu Miaoyue, Chen Huamu, Wu Xiaohong, Wei Xiaoya, Lin Hongrong, Gao Xuefei, Wang Haiyan, Li Min, Ong Albert C M, Yue Zhihui, Sun Liangzhong
Abstract excerpt
Nephronophthisis (NPH) is the most prevalent monogenetic disorder leading to end-stage renal failure (ESRD) in childhood. Mutations in Nphp1, encoding a cilia-localized protein, account for the majority of NPH cases. Despite its identification many years ago, Nphp1 deletions targeting exon 4 or exon 20 have not reproduced the histological features of human NPH in murine models. In this study, we deleted exon 2-20...
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