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].


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