CRISPR ‐Cas9‐Generated TXNDC15 c. 560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis 2026 Open access

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Authors: Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiaoli Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo
DOI: 10.1002/dvg.70040
Cited by: 0
References: 27

Abstract

ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5. Homozygous Txndc15 mt/mt embryos displayed the complete MKS phenotype—fetal lethality, exencephaly, omphalocele, post‐axial polydactyly, and polycystic kidneys—together with markedly reduced TXNDC15 protein in brain, liver, and kidney. These findings confirm TXNDC15 as a bona fide MKS disease gene.

Fields of Study & Subjects

Genetic and Kidney Cyst Diseases Genomics and Rare Diseases Cystic Fibrosis Research Advances

Publication details

Journal / source
genesis
Volume
64
Issue
1
Pages
e70040–e70040
Publication date
10 January 2026
Language
EN