OMIA:002955-9986 : Adrenoleukodystrophy, ABCD1-related in Oryctolagus cuniculus (rabbit) |
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300371 (gene) , 300100 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: Zhou et al. (2024) created a rabit model for X-linked adrenoleukodystrophy using CRISPR/Cas9 technology to knock out ABCD1 and evaluated rAAV9-based gene therapy in these knockout rabbits. This phene includes references to studies involving 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 |
|---|---|---|---|---|---|---|
| ABCD1 | ATP binding cassette subfamily D member 1 | Oryctolagus cuniculus | X | NC_091453.1 (132088608..132105300) | ABCD1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002955-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2025 | Zhou, X., Ma, C.Y., Zhang, X., Xu, X., Duan, F., Kou, M., Liu, H., Zeng, L., Guo, L., Chen, S., Chen, L., Li, Z., Luo, J., Wu, J., Li, Z., Li, Z., Sui, T., Yuan, P., Lin, Z., Chen, H., Lai, L., Lian, Q. : |
| Development of a rabbit model for adrenoleukodystrophy: A pilot study on gene therapy using rAAV9. Mol Ther Nucleic Acids 36:102469, 2025. Pubmed reference: 40027885. DOI: 10.1016/j.omtn.2025.102469. |
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- Created by Imke Tammen2 on 02 May 2025