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

Genesis (New York, N.Y. : 2000) - 1 Feb 2026

Liu Yang, Wang Hui, Chen Liyuan, Wu Xiaoxia, Xu Zhiyong, Huang Qingfa, Zhang Hu, Cao Xiushu, Liang Xinyuan, Zhong Xingjian, Luo Caiqun

Abstract excerpt

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 Txndc15mt/mt embryos displayed the complete MKS phenotype-fetal lethality, exencephaly, omphalocele, post-axial polydactyly, and polycystic...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41518077
DOI: 10.1002/dvg.70040
PMCID: PMC12789988

Genes

TXNDC15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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