OMIA:003004-80972 : Skin colour, pattern, gja5b-related in Amphiprion ocellaris (clown anemonefish) |
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 121013 (gene)
Single-gene trait/disorder: yes
Disease-related: unknown
Key variant known: yes
Year key variant first reported: 2025
Species-specific name: Snowflake
Molecular basis: Klann et al. (2025) identified that a gja5b variant (c.124G>A; p.(E42K); omia.variant:1832) causes the Snowflake phenotype (jagged boundaries between colored bars). "Using CRISPR/Cas9 and transgenesis, [the authors] recapitulate the Snowflake phenotype and show expression of gja5b in iridophores."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| gja5b | Amphiprion ocellaris | - | no genomic information (-..-) | gja5b | Ensembl |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1832 | Skin colour pattern, Snowflake | gja5b | substitution | missense | Naturally occurring variant | Not currently evaluated | c.124G>A | p.(E42K) | 2025 | 40909517 |
* 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:003004-80972: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Klann, M., Miura, S., Lee, S.H., Vianello, S.D., Ross, R., Watanabe, M., Gairin, E., Liang, Y., Hutto, H.W., McCluskey, B.M., Herrera, M., Solnica-Krezel, L., Besseau, L., Pigolotti, S., Parichy, D.M., Kinoshita, M., Laudet, V. : |
| Cell-cell communication as underlying principle governing color pattern formation in fishes. bioRxiv , 2025. Pubmed reference: 40909517. DOI: 10.1101/2025.08.21.671633. |
Edit History
- Created by Imke Tammen2 on 09 Sep 2025