OMIA:002834-8090 : Spondyloepiphyseal dysplasia tarda in Oryzias latipes (Japanese medaka) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 313400 (trait) , 300202 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: Zappa et al. (2034) generated a Sedlin [TRAPPC2] knockout animal by mutating the orthologous TRAPPC2 gene (olSedl) of Oryzias latipes (medaka) fish [using transcription activator-like effector nuclease (TALEN)-targeted mutagenesis]. OlSedl deficiency leads to embryonic defects, short size, diminished skeletal ossification and altered Col2 production and secretion, resembling human defects observed in SEDT [skeletal dysplasia spondyloepiphyseal dysplasia tarda] patients. Moreover, SEDT knock-out animals display photoreceptor degeneration and gut morphogenesis defects, suggesting a key role for Sedlin in the development of these organs."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| trappc2 | trafficking protein particle complex subunit 2 | Oryzias latipes | 21 | NC_019879.2 (23982926..23981434) | trappc2 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002834-8090: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Zappa, F., Intartaglia, D., Guarino, A.M., De Cegli, R., Wilson, C., Salierno, F.G., Polishchuk, E., Sorrentino, N.C., Conte, I., De Matteis, M.A. : |
| Role of trafficking protein particle complex 2 in medaka development. Traffic 25:e12924, 2024. Pubmed reference: 37963679. DOI: 10.1111/tra.12924. |
Edit History
- Created by Imke Tammen2 on 07 Apr 2024