OMIA:001542-9986 : Hypophosphatemic rickets, autosomal recessive, 1 in Oryctolagus cuniculus |
In other species: sheep
Categories: Skeleton phene (incl. short stature & teeth)
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 241520 (trait) , 600980 (gene)
Links to MONDO diseases:
Mendelian trait/disorder: unknown
Considered a defect: 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).
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 |
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