OMIA:002623-9615 : Ciliary dyskinesia, primary, STK36-related in Canis lupus familiaris (dog)

Categories: Respiratory system phene , Cellular phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 607652 (gene) , 619436 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2023

Molecular basis: Christen et al. (2023): "Whole genome sequencing data from the affected dog was obtained and searched for variants in PCD candidate genes that were not present in 918 control genomes from different breeds. This revealed a homozygous single base pair exchange at a splice site of STK36, XM_038585732.1:c.2868-1G>A. The mutant allele was absent from 281 additionally genotyped Australian Shepherd dogs. RT-PCR confirmed aberrant splicing in the affected dog with the skipping of exon 20 and the insertion of a cryptic exon, which is predicted to lead to a premature stop codon and truncation of 36% of the STK36 wild-type open reading frame, XP_038441660.1:(p.Met957Profs*11)."

Clinical features: Christen et al. (2023) "investigated an Australian Shepherd dog with a history of recurrent respiratory infections and nasal discharge." Disease onset was noticed at 8 weeks of age. The impaired mucociliary clearance and resulting recurrent airway infections required frequent treatments. The dog was 6 years old at the time of the investigation by Christen et al. (2023).

Pathology: Christen et al. (2023): "A transmission electron microscopy investigation led to the diagnosis of PCD with central pair defect, in which the normal 9:2 arrangement of respiratory cilia was altered and reduced to a 9:0 arrangement."

Breed: Australian Shepherd (Dog) (VBO_0200095).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
STK36 serine/threonine kinase 36 Canis lupus familiaris 37 NC_051841.1 (25288815..25313775) STK36 Homologene, Ensembl , NCBI gene


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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 Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1527 Australian Shepherd (Dog) Primary ciliary dyskinesia, STK-related STK36 splicing Naturally occurring variant UU_Cfam_GSD_1.0 37 g.25167072G>A c.2868-1G>A p.(M957Pfs*11) XM_038585732.1; XP_038441660.1 2023 36786090

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002623-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


2023 Christen, M., Ludwig-Peisker, O., Jagannathan, V., Hetzel, U., Schönball, U., Leeb, T. :
STK36 splice site variant in an Australian Shepherd dog with primary ciliary dyskinesia. Anim Genet 54:412-415, 2023. Pubmed reference: 36786090. DOI: 10.1111/age.13306.

Edit History

  • Created by Imke Tammen2 on 17 Feb 2023
  • Changed by Tosso Leeb on 18 Feb 2023