OMIA:002855-9986 : Hypoxanthine guanine phosphoribosyltransferase deficiency in Oryctolagus cuniculus (rabbit) |
Categories: Renal / urinary system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 300322 (trait) , 308000 (gene)
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Year key variant first reported: 2024
Cross-species summary: Variants in the HPRT gene result in a defective purine metabolism; in humans called Lesch-Nyhan syndrome.
Species-specific description: This phene includes references to studies involving gene edited or genetically modified organisms (GMO).
Molecular basis: Yin et al. (2024) created a rabbit model for Lesch-Nyhan syndrome using CRISPR/Cas9 HPRT knock out.
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 |
|---|---|---|---|---|---|---|
| HPRT1 | hypoxanthine phosphoribosyltransferase 1 | Oryctolagus cuniculus | X | NC_067395.1 (108724788..108768186) | HPRT1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002855-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Yin, Z., Shu-Wen, Z., Li, N., Zi-Yi, L., Xuan, L., Jia-Hui, X., Yue, G., Xiao-Qing, Z., Cheng-Cheng, T. : |
| Establishment and characterization of Lesch-Nyhan syndrome rabbit model. Yi Chuan 46:408-420, 2024. Pubmed reference: 38763775. DOI: 10.16288/j.yczz.24-012. |
Edit History
- Created by Imke Tammen2 on 21 May 2024