OMIA:002538-9483 : Alzheimer disease, APP-related in Callithrix jacchus (white-tufted-ear marmoset)

In other species: crab-eating macaque , Rhesus monkey , dog , pig

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 104300 (trait) , 104760 (gene) , 605714 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Yoshimatsu et al. (2022) "report generation of a non-human primate (NHP), common marmoset model ubiquitously expressing Amyloid-beta precursor protein (APP) transgenes with the Swedish (KM670/671NL) and Indiana (V717F) mutations. ... Although the transgenesis approach alone seemed not sufficient to fully recapitulate AD in NHPs, it may be beneficial for drug development and further disease modeling by combination with other genetically engineered models and disease-inducing approaches." This study involves 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

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
APP amyloid beta (A4) precursor protein Callithrix jacchus 21 NC_071462.1 (30617470..30336870) APP Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002538-9483: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2024 Huhe, H., Shapley, S.M., Duong, D., Wu, F., Ha, S.K., Choi, S.H., Kofler, J., Mou, Y., Guimaraes, T.R., Thathiah, A., Schaeffer, L.K.H., Carter, G.W., Seyfried, N.T., Silva, A.C., Sukoff Rizzo, S.J. :
Marmosets as model systems for the study of Alzheimer's disease and related dementias: substantiation of physiological Tau 3R and 4R isoform expression and phosphorylation. bioRxiv :2024.04.26.590453, 2024. Pubmed reference: 38746277. DOI: 10.1101/2024.04.26.590453.
2023 Perez-Cruz, C., Rodriguez-Callejas, J.D. :
The common marmoset as a model of neurodegeneration. Trends Neurosci , 2023. Pubmed reference: 36907677. DOI: 10.1016/j.tins.2023.02.002.
2022 Yoshimatsu, S., Seki, F., Okahara, J., Watanabe, H., Sasaguri, H., Haga, Y., Hata, J.I., Sanosaka, T., Inoue, T., Mineshige, T., Lee, C.Y., Shinohara, H., Kurotaki, Y., Komaki, Y., Kishi, N., Murayama, A.Y., Nagai, Y., Minamimoto, T., Yamamoto, M., Nakajima, M., Zhou, Z., Nemoto, A., Sato, T., Ikeuchi, T., Sahara, N., Morimoto, S., Shiozawa, S., Saido, T.C., Sasaki, E., Okano, H. :
Multimodal analyses of a non-human primate model harboring mutant amyloid precursor protein transgenes driven by the human EF1α promoter. Neurosci Res 185:49-61, 2022. Pubmed reference: 36075457. DOI: 10.1016/j.neures.2022.08.008.

Edit History

  • Created by Imke Tammen2 on 13 Sep 2022
  • Changed by Imke Tammen2 on 13 Sep 2022
  • Changed by Imke Tammen2 on 18 Dec 2023