OMIA:001718-8090 : Dwarfism, Schmid metaphyseal chondrodysplasia in Oryzias latipes (Japanese medaka) |
In other species: pig
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 156500 (trait) , 120110 (gene)
Links to relevant human diseases in MONDO:
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: This phene includes references to studies involving gene edited or genetically modified organisms (GMO).
Molecular basis: Tan et al. (2024) "generated a medaka (Oryzias latipes) MCDS model harboring a 5 base pair deletion in col10a1, which led to a frameshift and disruption of 11 amino acids in the conserved trimerization domain. col10a1Δ633a heterozygotes recapitulated key features of MCDS and revealed early cell polarity defects as cause for dysregulated matrix secretion and deformed skeletal structures."
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| col10a1a | collagen, type X, alpha 1a | Oryzias latipes | 22 | NC_019880.2 (8040396..8044542) | col10a1a | Homologene, 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 | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1795 | Skeletal defects, col10a1a-related | col10a1a | deletion, small (<=20) | Genome-editing (CRISPR-Cas9) | p.(C633fs) | 5 base pair deletion | 2024 | 38510140 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:001718-8090: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Tan, W.H., Rücklin, M., Larionova, D., Ngoc, T.B., Joan van Heuven, B., Marone, F., Matsudaira, P., Winkler, C. : |
| A collagen10a1 mutation disrupts cell polarity in a medaka model for metaphyseal chondrodysplasia type Schmid. iScience 27:109405, 2024. Pubmed reference: 38510140. DOI: 10.1016/j.isci.2024.109405. |
Edit History
- Created by Imke Tammen2 on 27 Apr 2025