OMIA 002575-9823 : Alzheimer, SORL1-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 602005 (gene)

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Andersen et al. (2022): "To test whether SORL1 can function as an AD [Alzheimer disease] causal gene, we use CRISPR-Cas9-based gene editing to develop a model of SORL1 haploinsufficiency in Göttingen minipigs .... SORL1 haploinsufficiency in young adult minipigs is found to phenocopy the preclinical in vivo profile of AD observed with APP, PSEN1, and PSEN2, resulting in elevated levels of β-amyloid (Aβ) and tau preceding amyloid plaque formation and neurodegeneration, as observed in humans." This study involves genetically modified organisms (GMO).

Breed: Göttingen minipig.


2022 Andersen, O.M., Bøgh, N., Landau, A.M., Pløen, G.G., Jensen, A.M.G., Monti, G., Ulhøi, B.P., Nyengaard, J.R., Jacobsen, K.R., Jørgensen, M.M., Holm, I.E., Kristensen, M.L., Alstrup, A.K.O., Hansen, E.S.S., Teunissen, C.E., Breidenbach, L., Droescher, M., Liu, Y., Pedersen, H.S., Callesen, H., Luo, Y., Bolund, L., Brooks, D.J., Laustsen, C., Small, S.A., Mikkelsen, L.F., Sørensen, C.B. :
A genetically modified minipig model for Alzheimer's disease with SORL1 haploinsufficiency. Cell Rep Med :100740, 2022. Pubmed reference: 36099918. DOI: 10.1016/j.xcrm.2022.100740.

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  • Created by Imke Tammen2 on 17 Sep 2022