OMIA:002891-9669 : Lissencephaly, DCX-related in Mustela putorius furo (domestic ferret) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300121 (gene) , 300067 (trait)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Molecular basis: Kou et al. (2015) "report that by co-injecting Cas9 mRNA and sgRNAs into one-cell-stage embryos, founder ferrets with biallelic mutations in one of three genes (Dcx, Aspm and Disc1) can be generated with high efficiency up to 73.3%. Intriguingly, the founder animal carrying Dcx mutations showed a lissencephaly phenotype similar to human Doublecortin patients." This study involves gene edited or 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 |
|---|---|---|---|---|---|---|
| DCX | doublecortin | Mustela putorius furo | NW_025422049.1 (15054523..15157695) | DCX | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002891-9669: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2024 | Wang, W., Yin, C., Wen, S., Liu, Z., Wang, B., Zeng, B., Sun, L., Zhou, X., Zhong, S., Zhang, J., Ma, W., Wu, Q., Wang, X. : |
| DCX knockout ferret reveals a neurogenic mechanism in cortical development. Cell Rep 43:S2211-1247(24)00837-4:114508, 2024. Pubmed reference: 39018244. DOI: 10.1016/j.celrep.2024.114508. | |
| 2015 | Kou, Z., Wu, Q., Kou, X., Yin, C., Wang, H., Zuo, Z., Zhuo, Y., Chen, A., Gao, S., Wang, X. : |
| CRISPR/Cas9-mediated genome engineering of the ferret. Cell Res 25:1372-5, 2015. Pubmed reference: 26565559. DOI: 10.1038/cr.2015.130. |
Edit History
- Created by Imke Tammen2 on 07 Sep 2024
- Changed by Imke Tammen2 on 07 Sep 2024