OMIA:003096-9940 : Progressive pseudorheumatoid dysplasia, CCN6-related in Ovis aries (sheep) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603400 (gene) , 208230 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Ramirez et al. (2026) used CRISPR-Cas9 technology to generate CCN6 knock out (KO) sheep as a model for progressive pseudorheumatoid arthropathy of childhood (PPAC): "One compound heterozygote male (4 and 8 base pair deletions) and one compound heterozygote female (61 and 12 base pair deletions) in Cohort 1 were followed alongside wildtype controls for clinical and radiographic signs of disease. ... In Cohort 2, ... two contiguous stop codons at amino acid positions 91 and 92 of CCN6 [were introduced, (omia.variant:1952)] .... and 14 lambs were born ... . ... A subset of KO and WT sheep were euthanized to evaluate phenotype and assess joint pathology ... , and the remaining KO sheep were maintained for breeding."
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: Ramirez et al. (2026) "CCN6-KO sheep recapitulate clinical, histological, and molecular features of [progressive pseudorheumatoid arthropathy of childhood] PPAC ... . "
Breed:
Rambouillet (Sheep) (VBO_0001570).
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 |
|---|---|---|---|---|---|---|
| CCN6 | cellular communication network factor 6 | Ovis aries | 8 | NC_056061.1 (25699221..25681879) | CCN6 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1952 | Rambouillet (Sheep) | Progressive pseudorheumatoid arthropathy | CCN6 | delins, small (<=20) | nonsense (stop-gain) | Genome-editing (CRISPR-Cas9) | Not currently evaluated | ARS-UI_Ramb_v2.0 | 8 | NC_056061.1:g.25692938_25692943delinsTCACTA | XM_027972578.3:c.313_318delinsTAGTGA | XP_027828379.2:p.(D105*) | 2026 | 42880393 |
* 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:003096-9940: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Ramirez, N.J., Silveira, C.J., Lunde-Young, R., Huggins, S., Giering, J.J., Mehrotra, D.R., Brisebois, H.E., Montagna, G., Sherman, K.M., Falck, A., Dahlstrom, C.B., Westhusin, M.E., Pryor, J.H., Albro, M.B., Gaddy, D., Long, C.R., Warman, M.L., Suva, L.J., Craft, A.M. : |
| Modeling progressive pseudorheumatoid arthropathy of childhood: Disease progression and cartilage pathology in CCN6 knockout sheep. Osteoarthritis Cartilage :S1063-4584(26)01088-5, 2026. Pubmed reference: 42880393. DOI: 10.1016/j.joca.2026.10.007. |
Edit History
- Created by Imke Tammen on 17 Oct 2026
- Changed by Imke Tammen on 17 Oct 2026