OMIA:001403-9986 : Pancreatitis, hereditary in Oryctolagus cuniculus (rabbit) |
In other species: dog
Categories: Endocrine / exocrine gland phene (incl mammary gland)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 167800 (trait) , 608189 (trait) , 167790 (gene) , 114850 (gene)
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: Yang et al. (2025) "generated a rabbit model mimicking the human CPA1S282P mutation using the SpRY-ABE-8.17 system. Homozygous CPA1S282P rabbits exhibited characteristic human CP phenotypes following alcohol induction ... ."
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
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CPA1 | carboxypeptidase A1 | Oryctolagus cuniculus | 3 | NC_091434.1 (166498693..166504442) | CPA1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1807 | Chronic pancreatitis, susceptibility to | CPA1 | substitution | missense | Base-editing | Not currently ISAG evaluated | OryCun2.0 | 7 | NC_013675.1:g.14267750A>G | XM_008258192.2:c.580T>C | XP_008256414.1:p.(S194P) | published as p.(S282P) based on human coordinates | 2025 | 40383969 |
* 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:001403-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Yang, J., Liu, X., Li, C.Y., Zhang, Z.T., Wu, X.Y., Jiang, L.Q., Fang, M.M., Lai, L.X., Li, Z.J., Song, Y.N. : |
| CPA1 S282P mutation leads to chronic pancreatitis in rabbits. Zool Res 46:2095-8137(2025)03-0647-14:647-660, 2025. Pubmed reference: 40383969. DOI: 10.24272/j.issn.2095-8137.2024.419. |
Edit History
- Created by Imke Tammen2 on 20 May 2025
- Changed by Imke Tammen2 on 20 May 2025