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OMIA:002493-9823 : Alzheimer disease, PSEN1-related in Sus scrofa (pig)

In other species: white-tufted-ear marmoset

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 104311 (gene) , 607822 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

Species-specific description: This phene includes references to studies involving genetically modified organisms (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

Breed: Göttingen minipig.
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PSEN1 presenilin 1 Sus scrofa 7 NC_010449.5 (96478179..96567884) PSEN1 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002493-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2021 Yang, W., Chen, X., Li, S., Li, X.J. :
Genetically modified large animal models for investigating neurodegenerative diseases. Cell Biosci 11:218, 2021. Pubmed reference: 34933675. DOI: 10.1186/s13578-021-00729-8.
2013 Jakobsen, J.E., Johansen, M.G., Schmidt, M., Dagnæs-Hansen, F., Dam, K., Gunnarsson, A., Liu, Y., Kragh, P.M., Li, R., Holm, I.E., Callesen, H., Mikkelsen, J.G., Nielsen, A.L., Jørgensen, A.L. :
Generation of minipigs with targeted transgene insertion by recombinase-mediated cassette exchange (RMCE) and somatic cell nuclear transfer (SCNT). Transgenic Res 22:709-23, 2013. Pubmed reference: 23111619. DOI: 10.1007/s11248-012-9671-6.

Edit History


  • Created by Imke Tammen2 on 09 Jan 2022
  • Changed by Imke Tammen2 on 19 Mar 2022
  • Changed by Imke Tammen2 on 18 Dec 2023