OMIA:002943-9615 : Retinal atrophy, progressive, JPH2-related in Canis lupus familiaris (dog) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 605267 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific symbol: IRD-JPH2 (Mowat et al., 2024)
Molecular basis: Urkasemsin et al. (2021) conducted whole genome sequencing in affected Shi Tzu and identified a likely causal nonsense variant in JHP2 (c.452A>C, p.(L151X)).
Breed:
Shih Tzu (Dog) (VBO_0201223).
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 |
|---|---|---|---|---|---|---|
| JPH2 | junctophilin 2 | Canis lupus familiaris | 24 | NC_051828.1 (32435719..32371015) | JPH2 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1794 | Shih Tzu (Dog) | Retinal atrophy, progressive, JPH2-related | JPH2 | nonsense (stop-gain) | Naturally occurring variant | CanFam3.1 | 24 | c.452A>C | p.L151X | 2021 | 34231238 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002943-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2024 | Mowat, F.M., Iwabe, S., Aguirre, G.D., Petersen-Jones, S.M. : |
| Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol 28:663-667, 2024. Pubmed reference: 38334230. DOI: 10.1111/vop.13185. | |
| 2021 | Urkasemsin, G., Pongpanich, M., Sariya, L., Kongcharoen, A., Buddhirongawatr, R., Rungarunlert, S., Ferreira, J.N., Chetruengchai, W., Phokaew, C., Srichomthong, C., Shotelersuk, V. : |
| Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy. Anim Genet 52:714-719, 2021. Pubmed reference: 34231238. DOI: 10.1111/age.13118. |
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- Created by Imke Tammen2 on 27 Apr 2025