OMIA 002162-9940 : Hypophosphatasia in Ovis aries

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 241500 (trait) , 171760 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Species-specific description: This ovine disorder has been created by CRISPR/Cas9 technology. This entry is thus describing a genetically-modified organism (GMO).

History: Williams et al. (2018) used "CRISPR/Cas9 to introduce a single point mutation in the tissue nonspecific alkaline phosphatase (TNSALP) gene (ALPL) (1077 C > G) in sheep", to produce a large-animal model of hypophosphatasia.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ALPL alkaline phosphatase, liver/bone/kidney Ovis aries 2 NC_056055.1 (244983340..244918595) ALPL Homologene, Ensembl, NCBI gene


2018 Williams, D.K., Pinzón, C., Huggins, S., Pryor, J.H., Falck, A., Herman, F., Oldeschulte, J., Chavez, M.B., Foster, B.L., White, S.H., Westhusin, M.E., Suva, L.J., Long, C.R., Gaddy, D. :
Genetic engineering a large animal model of human hypophosphatasia in sheep. Sci Rep 8:16945, 2018. Pubmed reference: 30446691. DOI: 10.1038/s41598-018-35079-y.

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  • Created by Frank Nicholas on 20 Nov 2019