A nonsense mutation in the Mocos gene induces xanthinuria, o…
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- DOI 10.1538/expanim.25-0127
- PMID https://pubmed.ncbi.nlm.nih.gov/41338991
- PMCID https://www.ncbi.nlm.nih.gov/pmc/articles/13100697
- OpenAlex ID W4416929181
- Type Article
- Language EN
- Published 02 Dec 2025
- Volume 75 (2)
- Pages 202–213
- Source EXPERIMENTAL ANIMALS
- Countries 1
- Institutions 4
- Added 02 Dec 2025
- Updated 28 Oct 2026
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A nonsense mutation in the Mocos gene induces xanthinuria, obstructive nephropathy, and anemia in rats
Article 2025 EN Diamond
Xanthinuria type II is a rare hereditary disorder caused by mutations in the MOCOS gene, leading to dual deficiency of xanthine dehydrogenase and aldehyde oxidase. To establish a robust animal model for this condition, we generated Mocos knock-in (KI) rats carrying the Arg419Ter nonsense mutation identified in Japanese patients. Homozygous KI rats exhibited severe growth retardation, anemia, and r…
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1 SDGsAuthors & Affiliations
11 authors| # | Author | Institutions | ORCID |
|---|---|---|---|
| 1 | Mao URASAKI | Tokyo University of Agricultur… (JP) | — |
| 2 | Kana Nagasaka | Tokyo University of Agricultur… (JP) | — |
| 3 | Minori Kido | Tokyo University of Agricultur… (JP) | — |
| 4 | Kenta Hayashi | Tokyo University of Agricultur… (JP) | — |
| 5 | Ayumi Watanabe | Tokyo University of Agricultur… (JP) | — |
| 6 | Kosuke Hattori | Institute of Medical Science, … (JP) The University of Tokyo (JP) | — |
| 7 | Takahiro Sekiguchi | Osaka Metropolitan University (JP) | — |
| 8 | Mitsuru Kuwamura | Osaka Metropolitan University (JP) | |
| 9 | Miyuu Tanaka | Osaka Metropolitan University (JP) | |
| 10 | Tomoji Mashimo | Institute of Medical Science, … (JP) The University of Tokyo (JP) | |
| 11 | Takashi Kuramoto | Tokyo University of Agricultur… (JP) |
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