OMIA:002654-9031 : Robinow syndrome, DVL1-related in Gallus gallus (chicken) |
Categories: Limbs / fins / digit / tail phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601365 (gene) , 616331 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Considered a defect: unknown
Species-specific description: Gignac et al. (2023) "examined the effects of human DVL1 mutations in chicken embryos and developing fly tissues. Our goal was to introduce the wild-type DVL1 using virus infection in the chicken ... . By carrying out these studies in a wildtype, endogenous Dvl/Dsh background, we could model the interaction between wild-type and mutant protein which is a crucial aspect of the human autosomal dominant RS genetics." This study involves genetically modified organisms (GMO).
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 |
|---|---|---|---|---|---|---|
| DVL1 | dishevelled segment polarity protein 1 | Gallus gallus | 21 | NC_052552.1 (2267329..2325025) | DVL1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002654-9031: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Gignac, S.J., MacCharles, K.R., Fu, K., Bonaparte, K., Akarsu, G., Barrett, T.W., Verheyen, E.M., Richman, J.M. : |
| Mechanistic studies in Drosophila and chicken give new insights into functions of DVL1 in dominant Robinow syndrome. Dis Model Mech 16:dmm049844, 2023. Pubmed reference: 36916233. DOI: 10.1242/dmm.049844. |
Edit History
- Created by Imke Tammen2 on 18 Mar 2023
- Changed by Imke Tammen2 on 18 Mar 2023
- Changed by Imke Tammen2 on 18 Dec 2023