IMPC phenotypes (gene matching)
C57BL/6J-Appem1Bdes/H
| Status | Available to order |
| EMMA ID | EM:17014 |
| Citation information | RRID:IMSR_EM:17014 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6J-Appem1Bdes/H |
| Alternative name | C57BL/6J-App |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Appem1Bdes |
| Gene/Transgene symbol | App |
Information from provider
| Provider | Bart De Strooper |
| Provider affiliation | UK Dementia Research Institute, UCL Institute of Neurology |
| Genetic information | This strain is a knock-in model harboring a humanize Aβ sequence (G601R, F606Y and R609H mutations APP695) to the rodent APP exon 16 and two silent mutations, one deleting a EcoRI Restriction site. We validated the different APP processing in human, mouse and rat brain by western blot analysis. The ratio of β-CTF over full length APP in human samples is 4.8 (p |
| Phenotypic information | Homozygous:Full length APP and total APP-CTF levels were unchanged in mice, but APP-β-CTF signals increased 4.2 fold in APPhu/hu mice. Conversely, APP-α-CTF signals decreased 0.7 fold in APPhu/hu mice.Heterozygous:No overt phenotype |
| Breeding history | Maintained on C57BL/6J |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- ABeta amyloidosis, Italian type / Orphanet_324713
- ABetaL34V amyloidosis / Orphanet_324703
- ABeta amyloidosis, Arctic type / Orphanet_324723
- ABetaA21G amyloidosis / Orphanet_324718
- ABeta amyloidosis, Dutch type / Orphanet_100006
- ABeta amyloidosis, Iowa type / Orphanet_324708
- Early-onset autosomal dominant Alzheimer disease / Orphanet_1020
MGI phenotypes (gene matching)
- amyloidosis / MGI
- muscle degeneration / MGI
- decreased corpus callosum size / MGI
- abnormal telencephalon morphology / MGI
- decreased body weight / MGI
- increased anxiety-related response / MGI
- abnormal locomotor behavior / MGI
- hyperactivity / MGI
- hypoactivity / MGI
- decreased exploration in new environment / MGI
- abnormal cued conditioning behavior / MGI
- abnormal spatial learning / MGI
- reduced long term potentiation / MGI
- impaired swimming / MGI
- intracerebral hemorrhage / MGI
- abnormal learning/memory/conditioning / MGI
- abnormal fear/anxiety-related behavior / MGI
- abnormal motor capabilities/coordination/movement / MGI
- premature death / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- decreased brain weight / MGI
- gliosis / MGI
- absent corpus callosum / MGI
- abnormal brain commissure morphology / MGI
- abnormal long term potentiation / MGI
- abnormal emotion/affect behavior / MGI
- increased thigmotaxis / MGI
- abnormal active avoidance behavior / MGI
- abnormal long term object recognition memory / MGI
- abnormal neuron morphology / MGI
- no phenotypic analysis / MGI
- abnormal locomotor activation / MGI
- amyloid beta deposits / MGI
- astrocytosis / MGI
- nervous system phenotype / MGI
- impaired passive avoidance behavior / MGI
- myositis / MGI
- homeostasis/metabolism phenotype / MGI
- growth/size/body region phenotype / MGI
- behavior/neurological phenotype / MGI
- abnormal cell physiology / MGI
- decreased hippocampal commissure size / MGI
- decreased anterior commissure size / MGI
- abnormal spatial reference memory / MGI
- hematoma / MGI
- microgliosis / MGI
- increased variability of skeletal muscle fiber size / MGI
- centrally nucleated skeletal muscle fibers / MGI
- abnormal synapse morphology / MGI
- decreased grip strength / MGI
- altered susceptibility to induced thrombosis / MGI
- abnormal circadian behavior / MGI
Literature references
- Modeling the β-secretase cleavage site and humanizing amyloid-beta precursor protein in rat and mouse to study Alzheimer's disease.;Serneels Lutgarde, T'Syen Dries, Perez-Benito Laura, Theys Tom, Holt Matthew G, De Strooper Bart, ;2020;Molecular neurodegeneration;15;60; 33076948