OMIA:003074-9615 : Ciliary dyskinesia, primary, SPAG1-related in Canis lupus familiaris (dog) |
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603395 (gene) , 615505 (trait)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2026
Molecular basis: Mead et al. (2026) investigated 3 Cocker Spaniel siblings with primary ciliary dyskinesia: "A 29 bp frameshift insertion in the eleventh exon of the candidate gene sperm‐associated antigen 1 (SPAG1) [NC_049234.1:g.2213788_2213789insGGCGGCGGCAAGCGGCCGGAGAGGGGCGC] was identified as likely causative for PCD in this family."
Clinical features: Mead et al. (2026): " Three female Cocker Spaniel siblings presented with chronic rhinitis/bronchitis from day three of life that resisted standard veterinary treatment. Pathophysiological examination of bronchial and nasal mucosal cellular samples using high‐speed video microscopy and electron microscopy ... confirmed the diagnosis of PCD. ... Situs inversus was not observed in the affected pups."
Breed:
Cocker Spaniel (Dog) (VBO_0200372).
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 |
|---|---|---|---|---|---|---|
| SPAG1 | sperm associated antigen 1 | Canis lupus familiaris | 13 | NC_051817.1 (2218823..2280267) | SPAG1 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1922 | Cocker Spaniel (Dog) | Ciliary dyskinesia, primery | SPAG1 | insertion, gross (>20) | frameshift | Naturally occurring variant | Not currently evaluated | UU_Cfam_GSD_1.0 | 13 | NC_049234.1:g.2213788_2213789insGGCGGCGGCAAGCGGCCGGAGAGGGGCGC | XM_038555197.1:c.1188_1189insGGCGGCGGCAAGCGGCCGGAGAGGGGCGC | NC_049234.1(XM_038555197.1):c.1190_1218dup | 2026 | 42575707 |
* 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:003074-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2026 | Mead, S.E., Hambrook, L.E., Suryadinata, R., Robinson, P., Wade, C.M. : |
| A novel frameshift variant in SPAG1 likely causes primary ciliary dyskinesia in Cocker Spaniels in Australia. Anim Genet 57:e70183, 2026. Pubmed reference: 42575707. DOI: 10.1002/age.70183. |
Edit History
- Created by Imke Tammen on 02 Sep 2026
- Changed by Imke Tammen on 02 Sep 2026