OMIA:002964-9986 : Thrombocytopenia, DUT-related in Oryctolagus cuniculus (rabbit) |
Categories: Haematopoietic system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601266 (gene) , 620044 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Fang et al. (2025): "a novel rabbit model of thrombocytopenia carrying the DUT c.3020A>G (p.Y116C) mutation was established using SpRY-ABEmax-mediated base editing. This model accurately recapitulates the clinical manifestations of human thrombocytopenia."
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Fang et al. (2025): "mutant rabbits exhibited significant reductions in megakaryocyte numbers, platelet counts, and survival rates when compared to wild-type controls."
Breed:
New Zealand White (Rabbit) (VBO_0001269).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| DUT | deoxyuridine triphosphatase | Oryctolagus cuniculus | 12 | NC_091443.1 (71081557..71094922) | DUT | Ensembl, NCBI gene |
Variants
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1806 | New Zealand White (Rabbit) | Thrombocytopenia | DUT | substitution | missense | Base-editing | Not currently evaluated | OryCun2.0 | 17 | NC_013685.1:g.24154696T>C | XM_002717835.3:c.347A>G | XP_002717881.2:p.(Y116C) | Published as c.3020A>G | 2025 | 40362420 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002964-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Fang, M., Yang, S., Liu, R., Wu, X., Jiang, L., Yang, J., Liu, X., Wang, G., Mu, C., Wang, X., Song, Y. : |
| DUT (p.Y116C)-mutation-induced thrombocytopenia in rabbits. Int J Mol Sci 26:4169, 2025. Pubmed reference: 40362420. DOI: 10.3390/ijms26094169. |
Edit History
- Created by Imke Tammen2 on 16 May 2025