OMIA 001542-9986 : Hypophosphatemic rickets, autosomal recessive, 1 in Oryctolagus cuniculus

In other species: sheep

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 241520 (trait) , 600980 (gene)

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_013683.1 (62514998..62506769) 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