OMIA:001071-9986 : Wilson disease in Oryctolagus cuniculus (rabbit) |
In other species: dog , domestic ferret , domestic cat , pig , taurine cattle , sheep
Categories: Liver/biliary system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 277900 (trait) , 606882 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2018
Cross-species summary: A disorder of copper metabolism, due to a deficiency of ceruloplasmin, which forms a complex with copper. The excess copper is deposited in the brain (causing mental retardation) or the liver (causing jaundice and cirrhosis).
Molecular basis: Jiang et al. (2018) "generated ATP7B site-directed point mutation rabbits to simulate a major mutation type in Asians (p. Arg778Leu) with Wilson disease (WD) by using the CRISPR/Cas9 system combined with single-strand DNA oligonucleotides (ssODNs)." This study involves gene edited or genetically modified organisms (GMO).
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: Jiang et al. (2018): "the rabbits carrying the allele with mutant ATP7B died at approximately three months of age. Additionally, the copper content in the livers of rabbits at the onset of WD increased nine-fold ... ."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| ATP7B | ATPase copper transporting beta | Oryctolagus cuniculus | 9 | NC_142875.1 (71528779..71447348) | ATP7B | 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 | AVCG Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1953 | Wilson disease | ATP7B | substitution | missense | Genome-editing (CRISPR-Cas9) | Not currently evaluated | mOryCun1.1 | 9 | NC_091440.1:g.71339782C>A | XM_051832252.2:c.2360G>T | XM_051832252.2:p.(R787L) | 2018 | 29358698 |
* Variant pathogenicity for single-gene diseases as evaluated according to the Animal Variant Classification Guidelines (AVCG) by the Variant Pathogenicity Working Group of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization (AGTS) Standing Committee: P = pathogenic, LP = likely pathogenic, VUS = variant of unknown significance, LB = likely benign, B = benign. For more information (including details on the classification of each variant) see LINKS.
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:001071-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2026 | Zheng, Z.W., Wu, Z.Y. : |
| Preclinical models of Wilson's disease: From pathogenesis to clinical translation. Zool Res 47:2095-8137(2026)06-1853-12:1853-1864, 2026. Pubmed reference: 42907939. DOI: 10.24272/j.issn.2095-8137.2025.679. | |
| 2018 | Jiang, W., Liu, L., Chang, Q., Xing, F., Ma, Z., Fang, Z., Zhou, J., Fu, L., Wang, H., Huang, X., Chen, X., Li, Y., Li, S. : |
| Production of Wilson disease model rabbits with homology-directed precision point mutations in the ATP7B gene using the CRISPR/Cas9 system. Sci Rep 8:1332, 2018. Pubmed reference: 29358698. DOI: 10.1038/s41598-018-19774-4. |
Edit History
- Created by Imke Tammen on 26 Oct 2026
- Changed by Imke Tammen on 26 Oct 2026