OMIA:002654-9031 : Robinow syndrome, DVL1-related in Gallus gallus (chicken)
Categories: Limbs / fins / digit / tail phene
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).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Cite this entry
|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.|
- Created by Imke Tammen2 on 18 Mar 2023
- Changed by Imke Tammen2 on 18 Mar 2023