OMIA:003088-9615 : Spondylocostal dysostosis, DLL3-related in Canis lupus familiaris (dog) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 277300 (trait) , 602768 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Varney et al. (2026): "Short-read whole-genome sequencing was performed ... . Variant analysis identified a novel splice acceptor variant in DLL3 (c.650-2A>C) [omia.variant:1946]. This mutation, located at the splice acceptor site preceding exon 5, is predicted to disrupt critical EGF-like domains and O-fucosylation sites essential for DLL3 protein function."
Clinical features: Varney et al. (2026): "A mixed-breed litter of three dogs presented with varying degrees of spinal malformations and underwent comprehensive phenotyping including radiographic and neurologic examination. Two littermates demonstrated classic SCDO [Spondylocostal dysostosis] features including shortened torsos, vertebral malformations, and rib abnormalities, while a third showed only caudal vertebral truncation."
Breed:
Mixed Breed (Dog) (VBO_0200902).
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 |
|---|---|---|---|---|---|---|
| DLL3 | delta like canonical Notch ligand 3 | Canis lupus familiaris | 1 | NC_051805.1 (114346404..114338412) | DLL3 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1946 | Mixed Breed (Dog) | Spondylocostal dysostosis | DLL3 | substitution | splicing | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 1 | NC_049222.1:114529289T>G | XM_038528906.1:c.650-2A>C | 2026 | 41751515 |
* 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:003088-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Varney, S., Vernau, K., Brown, C., Toedebusch, C., Vo, J., Bannasch, D. : |
| A splice acceptor variant in DLL3 is associated with spondylocostal dysostosis in a litter of mixed-breed dogs. Genes (Basel) 17:131, 2026. Pubmed reference: 41751515. DOI: 10.3390/genes17020131. |
Edit History
- Created by Imke Tammen on 05 Oct 2026
- Changed by Imke Tammen on 05 Oct 2026