OMIA:002971-9615 : GST-theta enzyme activity, GSTT1-like-related in Canis lupus familiaris (dog) |
Categories: Homeostasis / metabolism phene
Single-gene trait/disorder: yes
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2017
Molecular basis: Craft et al. (2017): "An Asp129_Gln130del variant in canine GSTT5 [also named GSTT1-like] is responsible for marked loss of GST-theta enzyme activity. This variant is significantly over-represented in purpose-bred laboratory beagles and in Pembroke Welsh corgis. Additional work will determine the prevalence of this variant among other purebred dogs, and will establish the substrate range of this polymorphic canine enzyme with respect to common environmental carcinogens."
Breeds:
Beagle (Dog) (VBO_0200131),
Pembroke Welsh Corgi (Dog) (VBO_0200995).
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 |
|---|---|---|---|---|---|---|
| LOC477558 | glutathione S-transferase theta-1 | Canis lupus familiaris | - | no genomic information (-..-) | LOC477558 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1816 | Beagle (Dog) Pembroke Welsh Corgi (Dog) | GST‐theta enzyme activity, deficiency | LOC477558 | deletion, small (<=20) | deletion (in-frame) | Naturally occurring variant | Not currently evaluated | CanFam3.1 | 26 | NC_006608.3:g.28565797_28565802del | XM_851878.6:c.385_390del | XM_851878.6:p.(D129_Q130del) | 2017 | 29105159 |
* 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
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002971-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2017 | Craft, S., Ekena, J., Sacco, J., Luethcke, K., Trepanier, L. : |
| A 6-bp deletion variant in a novel canine glutathione-S-transferase gene (GSTT5) leads to loss of enzyme function. J Vet Intern Med 31:1833-1840, 2017. Pubmed reference: 29105159. DOI: 10.1111/jvim.14861. |
Edit History
- Created by Imke Tammen2 on 03 Jul 2025
- Changed by Imke Tammen2 on 03 Jul 2025