Appem1Bdes
Endonuclease-mediated Allele Detail
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| Symbol: |
Appem1Bdes |
| Name: |
amyloid beta precursor protein; endonuclease-mediated mutation 1, Bart De Strooper |
| MGI ID: |
MGI:6512851 |
| Synonyms: |
Apphu |
| Gene: |
App Location: Chr16:84751236-84972187 bp, - strand Genetic Position: Chr16, 46.92 cM, cytoband C3-qter
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| Alliance: |
Appem1Bdes page
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| Allele Type: |
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Endonuclease-mediated (Humanized sequence) |
| Mutation: |
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Insertion
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Mutation details: CRISPR-targeting modified exon 16 to humanize the sequence with the amino acid substitutions glycine to arginine at position 676, phenylalanine to tyrosine at position 681, and arginine to histidine at position 684 (G676R, F681Y, R684H) analogous to the Alzheimer's disease associated human mutations KM670/671NL, E693G, I716F.
(J:303244)
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| Original: |
J:303244 Serneels L, et al., Modeling the beta-secretase cleavage site and humanizing amyloid-beta precursor protein in rat and mouse to study Alzheimer's disease. Mol Neurodegener. 2020 Oct 19;15(1):60 |
| All: |
2 reference(s) |
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Analysis Tools
