OMIA:002765-7957 : Eye, enlarged and protuberant in Carassius auratus (goldfish) |
Categories: Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 222448 (trait)
Single-gene trait/disorder: yes
Mode of inheritance: Recessive
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2020
Species-specific name: celestial eye (CE, also called Sky Gazer, Heavenward Star Gazer, Chotengan, and Deme Ranchu) and telescope eye (TE)
Species-specific symbol: d for telescope eye
Molecular basis: Li et al. (2025): "In 2020, Kon et al. reported three causal mutations of TEs through GWAS, i.e., a retrotransposon 13 kb insertion in Intron 45 of lrp2a (low-density lipoprotein receptor-related protein 2a) and two other nonsense mutations for the same gene (Exon 51 and Exon 73) [Kon et al., 2020, omia.variant:1875-1877]. In addition, gene editing of lrp2a via CRISPR/Cas9, which resulted in truncated proteins in two different goldfish strains (287 and 395 AA, respectively, compared with the original LRP2A protein with 4653 AA), both created the TE phenotype [Yu et al., 2022]." Li et al. (2025) "revealed that the CE mutation [omia.variant1878] affects the same gene but does not share the same causal mutations as the TE."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| lrp2a | low density lipoprotein receptor-related protein 2a | Carassius auratus | 9 | NC_039251.1 (8079114..7987336) | lrp2a | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1878 | Celestial eye | lrp2a | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | 9 | g.28575379C>T | 2025 | 41226661 | ||||||||
| 1877 | Telescope eye | lrp2a | insertion, gross (>20) | frameshift | Naturally occurring variant | Not currently evaluated | ASM336829v1 | 9 | 13-kBP insertion in intron 45 due to insertion of foamy-like endogenous retrovirus resulting in premature stop codon | 2020 | 32392470 | |||||||
| 1876 | Telescope eye | lrp2a | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | ASM336829v1 | 9 | NC_039251.1:g.7990395C>A | XM_026271200.1:c.13549G>T | XP_026126985.1:p.(G4517*) | published as p.G4480* | 2020 | 32392470 | ||||
| 1875 | Telescope eye | lrp2a | substitution | nonsense (stop-gain) | Naturally occurring variant | Not currently evaluated | ASM336829v1 | 9 | NC_039251.1:g.8006317G>T | XM_026271200.1:c.10386C>A | XP_026126985.1:p.(Y3462*) | published as p.(Y3425*) | 2020 | 32392470 |
* 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. (2026). OMIA:002765-7957: 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.
| 2025 | Li, R., Zhang, B., Sun, Y., Li, J. : |
| Independent mutations in the LRP2 gene mediating telescope eyes and celestial eyes in goldfish. Int J Mol Sci 26:10625, 2025. Pubmed reference: 41226661. DOI: 10.3390/ijms262110625. | |
| 2024 | Omori, Y., Burgess, S.M. : |
| The goldfish genome and its utility for understanding gene regulation and vertebrate body morphology. Methods Mol Biol 2707:335-355, 2024. Pubmed reference: 37668923. DOI: 10.1007/978-1-0716-3401-1_22. | |
| 2022 | Yu, P., Wang, Y., Li, Z., Jin, H., Li, L.L., Han, X., Wang, Z.W., Yang, X.L., Li, X.Y., Zhang, X.J., Zhou, L., Gui, J.F. : |
| Causal gene identification and desirable trait recreation in goldfish. Sci China Life Sci 65:2341-2353, 2022. Pubmed reference: 36374369. DOI: 10.1007/s11427-022-2194-7. | |
| 2020 | Kon, T., Omori, Y., Fukuta, K., Wada, H., Watanabe, M., Chen, Z., Iwasaki, M., Mishina, T., Matsuzaki, S.S., Yoshihara, D., Arakawa, J., Kawakami, K., Toyoda, A., Burgess, S.M., Noguchi, H., Furukawa, T. : |
| The genetic basis of morphological diversity in domesticated goldfish. Curr Biol 30:2260-2274.e6, 2020. Pubmed reference: 32392470. DOI: 10.1016/j.cub.2020.04.034. | |
| 2019 | Omori, Y., Kon, T. : |
| Goldfish: an old and new model system to study vertebrate development, evolution and human disease. J Biochem 165:209-218, 2019. Pubmed reference: 30219851. DOI: 10.1093/jb/mvy076. | |
| 2009 | Komiyama, T., Kobayashi, H., Tateno, Y., Inoko, H., Gojobori, T., Ikeo, K. : |
| An evolutionary origin and selection process of goldfish. Gene 430:5-11, 2009. Pubmed reference: 19027055. DOI: 10.1016/j.gene.2008.10.019. | |
| 1981 | Matsumura, M., Ohkuma, M., Honda, Y. : |
| Electron microscopic studies on celestial goldfish retina-a possible new type of retinal degeneration in experimental animals. Exp Eye Res 32:649-56, 1981. Pubmed reference: 7238641. DOI: 10.1016/s0014-4835(81)80013-9. | |
| 1935 | Matsui Y. : |
| Kagaku to shumikara mita Kingyo no kenkyuu (科学と趣味から見た金魚の研究) Seizando , 1935. |
Edit History
- Created by Imke Tammen2 on 07 Sep 2023
- Changed by Imke Tammen2 on 18 Feb 2026