OMIA:001542-9986 : Hypophosphatemic rickets, autosomal recessive, 1 in Oryctolagus cuniculus (rabbit) |
In other species: sheep
Categories: Skeleton phene (incl. short stature & teeth)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 241520 (trait) , 600980 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: unknown
Disease-related: yes
Species-specific description: Liu et al. (2019) "deleted the DMP1 gene in rabbit using CRISPR/Cas9. This rabbit model recapitulated many features of human ARHR" [autosomal recessive form of hypophosphatemic rickets]. This model is, therefore, a genetically-modified organism (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 |
|---|---|---|---|---|---|---|
| DMP1 | dentin matrix acidic phosphoprotein 1 | Oryctolagus cuniculus | 15 | NC_067388.1 (59423334..59420777) | DMP1 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001542-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2019 | Liu, T., Wang, J., Xie, X., Wang, K., Sui, T., Liu, D., Lai, L., Zhao, H., Li, Z., Feng, J.Q. : |
| DMP1 ablation in the rabbit results in mineralization defects and abnormalities in Haversian canal/osteon microarchitecture. J Bone Miner Res 34:1115-1128, 2019. Pubmed reference: 30827034. DOI: 10.1002/jbmr.3683. |
Edit History
- Created by Frank Nicholas on 10 Aug 2020
- Changed by Frank Nicholas on 10 Aug 2020
- Changed by Imke Tammen2 on 18 Dec 2023