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| Nomenclature |
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Symbol:
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Apptm1Cep
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Name:
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amyloid beta (A4) precursor protein;
targeted mutation 1, Cephalon Inc
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MGI ID: |
MGI:2652342 |
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Synonyms: |
APPnNLH |
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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:35500
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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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Mutation: | |
Nucleotide substitutions |
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Mutation details: An intronic floxed neo cassette and 2 missense mutations (K670N and M671L), originally identified in a Swedish kindred susceptible to familial Alzheimer's disease (FAD), were introduced into exon 16 via homologous recombination. Mutant protein was identified by Western blot analysis of mutant brain extracts. Quantification of the mutant protein showed levels to be reduced by 30% to 50% relative to Apptm1.1Cep, in which the neo cassette had been removed. (J:35500)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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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:35500
Reaume AG et al.,
"Enhanced amyloidogenic processing of the beta-amyloid precursor protein in gene-targeted mice bearing the Swedish familial Alzheimer's disease mutations and a humanized Abeta sequence."
J Biol Chem 1996 Sep 20;271(38):23380-8
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All: |
1 reference(s)
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Analysis Tools
