OMIA:002972-9615 : Nose, bifid, PDGFRA-related in Canis lupus familiaris (dog) |
Categories: Respiratory system phene , Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 173490 (gene)
Single-gene trait/disorder: yes
Disease-related: no
Key variant known: yes
Year key variant first reported: 2025
Cross-species summary: also called cleft nose
Molecular basis: Buckley et al. (2025) identified "a splice-acceptor variant in PDGFRA associated with bifid nose, a characteristic trait of Çatalburun dogs, implicating the gene's role in midline closure."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| PDGFRA | platelet derived growth factor receptor alpha | Canis lupus familiaris | 13 | NC_051817.1 (47339954..47386179) | PDGFRA | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1820 | Bifid nose | PDGFRA | substitution | splicing | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 13 | NC_049234.1:g.47440160A>C | XM_038556087.1:c.1122-2A>C | 2025 | 40127928 |
* 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
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002972-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Buckley, R.M., Bilgen, N., Harris, A.C., Savolainen, P., Tepeli, C., Erdoğan, M., Serres Armero, A., Dreger, D.L., van Steenbeek, F.G., Hytönen, M.K., Parker, H.G., Hale, J., Lohi, H., Çınar Kul, B., Boyko, A.R., Ostrander, E.A. : |
| Analysis of canine gene constraint identifies new variants for orofacial clefts and stature. Genome Res 35:1080-1093, 2025. Pubmed reference: 40127928. DOI: 10.1101/gr.280092.124. |
Edit History
- Created by Imke Tammen2 on 21 Jul 2025