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

Considered a defect: 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].


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