Peer-reviewed veterinary case report
CRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.
- Journal:
- Genesis (New York, N.Y. : 2000)
- Year:
- 2026
- Authors:
- Liu, Yang et al.
- Affiliation:
- Shenzhen Maternity and Child Healthcare Hospital · China
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 Txndc15embryos 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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/41518077/