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
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 104300 (trait) , 104760 (gene) , 605714 (trait)
Links to MONDO diseases:
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]. 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.
| 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