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| Nomenclature |
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Symbol:
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Apptm3.1Zhe
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Name:
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amyloid beta (A4) precursor protein;
targeted mutation 3.1, Hui Zheng
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MGI ID: |
MGI:4847574 |
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Synonyms: |
APP/hAbeta/mutC, APPki |
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Gene:
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App
Location:
Chr16:84954440-85173707 bp, - strand
Genetic Position: Chr16,
46.92 cM, cytoband C3-qter
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:166379
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: Exons 16 and 17 were replaced with a loxP site, a truncated exon 16 with a BACE cleavage site at K670M671 followed by a stop codon, an FRT-flanked neo cassette with a 3' loxP site, a modified exon 16 with the Swedish mutation K595N/M596L (APP695) and three additional mutations (G601R, F606Y, R609H) to humanize the sequence, and a modified exon 17 with the Arctic mutation E618G, London mutation V642I, silent mutation on G621S622 (GGTTCG to GGATCC) to create a BamHI site, and a frameshift mutation starting at I656H657H658 (ATC CAT CAT to ATC ATC AT) that results in a stop codon 30 bp after the frameshift side such that there are 10 resides behind I656. Cre-mediated recombination removed the truncated exon 16 and the neo cassette. (J:166379)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any App Mutation:
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9 strains or lines available |
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| References |
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Original: |
J:166379
Li H et al.,
"Genetic dissection of the amyloid precursor protein in developmental function and amyloid pathogenesis."
J Biol Chem 2010 Oct 1;285(40):30598-605
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All: |
1 reference(s)
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Analysis Tools
