OMIA:002926-9615 : Retinal atrophy, progressive, GTPBP2-related in Canis lupus familiaris (dog) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 617988 (trait) , 607434 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2025
Molecular basis: Murgiano et al. (2025): "Homozygosity mapping and whole-genome sequencing [of 2 affected Labrador retrievers and their unaffected parents] detected a homozygous 3-bp deletion in the coding region of GTPBP2, located in CFA12 (NC_049233.1:12,264,348_12,264,350del, c.1606_1608del, p.Ala536del)."
Clinical features: Murgiano et al. (2025) report 3 affected Labrador retrievers from the same litter with progressive retinal atrophy with onset of clinical signs between 7 month and 1.5 years. "Two of the dogs developed Addison’s disease .... ; one of these later developed diabetes mellitus and died from a hypoglycemic event."
Breed:
Labrador Retriever (Dog) (VBO_0200800).
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 |
|---|---|---|---|---|---|---|
| GTPBP2 | GTP binding protein 2 | Canis lupus familiaris | 12 | NC_051816.1 (12564921..12520899) | GTPBP2 | Homologene, 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 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1774 | Labrador Retriever (Dog) | Retinal atrophy, progressive, GTPBP2-related | GTPBP2 | deletion, small (<=20) | Naturally occurring variant | UU_Cfam_GSD_1.0 | 12 | NC_049233.1:g.12264348_12264350del | XM_038554178.1:c.1607_1609del | XP_038410105.1:p.(A536del) | Published as c.1606_1608del, c. coordinates updated to NCBI transcript | 2025 | 39971978 |
Clinical synopsis/links to phenotypes
| Variant | Phenotype(s) | References (Pubmed ID) |
|---|---|---|
| 1774 |
MP:0002090: abnormal vision
UPHENO:0074003: retina degeneration |
39971978 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002926-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Murgiano, L., Niggel, J.K., Akyürek, E.E., Sacchetto, R., Aguirre, G.D. : |
| GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy. Sci Rep 15:6079, 2025. Pubmed reference: 39971978. DOI: 10.1038/s41598-025-89446-7. |
Edit History
- Created by Imke Tammen2 on 21 Feb 2025
- Changed by Imke Tammen2 on 21 Feb 2025