OMIA:002465-8090 : Dental-skeletal-retinal anomaly, MIA3-related in Oryzias latipes (Japanese medaka) |
In other species: dog
Categories: Skeleton phene (incl. short stature & teeth) , Vision / eye phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613455 (gene) , 619269 (trait)
Single-gene trait/disorder: yes
Disease-related: unknown
Key variant known: no
Species summary: Yasuda et al. (2025) "constructed [CRISPR/Cas9-mediated] Tango1L-knockout (KO), Tango1S-KO [both encoded my MIA3], Tali-KO, and cTAGE5-KO [both encoded by MIA2] separately in medaka fish, a vertebrate model organism, and characterized them. Results showed that only Tango1L-KO conferred a lethal phenotype to medaka fish. Only Tango1L-KO medaka fish exhibited a shorter tail than wild-type (WT) fish and showed the defects in the export of type II collagen from the ER ... . This study involves gene edited or genetically modified organisms (GMO).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| mia3 | MIA SH3 domain ER export factor 3 | Oryzias latipes | 24 | NC_019882.2 (5958050..5942147) | mia3 | Ensembl, NCBI gene |
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2026). OMIA:002465-8090: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Yasuda, Y., Yoshida, T., Oue, M., Sengiku, M., Ishikawa, T., Saito, S., Jin, B., Mori, K. : |
| Tango1L but not Tango1S, Tali and cTAGE5 is required for export of type II collagen in medaka fish. Cell Struct Funct 50:65-76, 2025. Pubmed reference: 39842788. DOI: 10.1247/csf.25001. |
Edit History
- Created by Imke Tammen2 on 07 Jan 2026