OMIA:002538-9615 : Alzheimer disease, APP-related in Canis lupus familiaris (dog)

In other species: white-tufted-ear marmoset , crab-eating macaque , Rhesus monkey , 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: yes

Considered a defect: yes

Key variant known: no

Year key variant first reported: 2014

Molecular basis: Lee et al. (2014) "generated transgenic canines that overexpressed the human amyloid precursor protein (APP) gene containing well-characterized familial Alzheimer's disease (AD) mutations. We successfully obtained five out of six live puppies by SCNT. This was confirmed by observing the expression of green fluorescence protein in the body as a visual transgenic marker and the overexpression of the mutated APP gene in the brain. The transgenic canines developed AD-like symptoms ... ."

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 precursor protein Canis lupus familiaris 31 NC_051835.1 (21669000..21405966) APP Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002538-9615: 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.

2023 Hossein, M.S., Son, Y.B., Jeong, Y.W., Jeong, Y.I., Kang, M.N., Choi, E.J., Park, K.B., Bae, Y.R., Kim, D.Y., Hwang, W.S. :
Production of transgenic first filial puppies expressing mutated human amyloid precursor protein gene. Front Vet Sci 10:1227202, 2023. Pubmed reference: 37964915. DOI: 10.3389/fvets.2023.1227202.
2014 Lee, G.S., Jeong, Y.W., Kim, J.J., Park, S.W., Ko, K.H., Kang, M., Kim, Y.K., Jung, E.M., Moon, C., Hyun, S.H., Hwang, K.C., Kim, N.H., Shin, T., Jeung, E.B., Hwang, W.S. :
A canine model of Alzheimer's disease generated by overexpressing a mutated human amyloid precursor protein. Int J Mol Med 33:1003-12, 2014. Pubmed reference: 24481173. DOI: 10.3892/ijmm.2014.1636.

Edit History

  • Created by Imke Tammen2 on 17 Jan 2024
  • Changed by Imke Tammen2 on 17 Jan 2024