OMIA:002869-8319 : Fibroblast growth factor 10 deficiency in Pleurodeles waltl (Iberian ribbed newt) |
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 602115 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Species-specific name: FGF10 mutant
Species-specific description: Suzuki et al. (2024) "established Fgf10 mutant lines [using CRISPR-Cas9] in the newt Pleurodeles waltl which has amazing regenerative ability. While Fgf10 mutant forelimbs develop normally, the hindlimbs fail to develop and downregulate FGF target genes. Despite these developmental defects, Fgf10 mutants were able to regenerate normal hindlimbs rather than recapitulating the embryonic phenotype. Together, our results demonstrate an important role for FGF10 in hindlimb formation, but little or no function in regeneration ... ." 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
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002869-8319: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
2024 | Suzuki, M., Okumura, A., Chihara, A., Shibata, Y., Endo, T., Teramoto, M., Agata, K., Bronner, M.E., Suzuki, K.T. : |
Fgf10 mutant newts regenerate normal hindlimbs despite severe developmental defects. Proc Natl Acad Sci U S A 121:e2314911121, 2024. Pubmed reference: 38442169. DOI: 10.1073/pnas.2314911121. |
Edit History
- Created by Imke Tammen2 on 20 Aug 2024
- Changed by Imke Tammen2 on 20 Aug 2024