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Targeted Allele Detail
Symbol: Apptm1Cep
Name: amyloid beta (A4) precursor protein; targeted mutation 1, Cephalon Inc
MGI ID: MGI:2652342
Synonyms: APPnNLH
Gene: App  Location: Chr16:84952666-85173952 bp, - strand  Genetic Position: Chr16, 46.92 cM, cytoband C3-qter
Germline Transmission:  Earliest citation of germline transmission: J:35500
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Humanized sequence)
Mutation:    Nucleotide substitutions
Mutation detailsAn 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any App Mutation:  16 strains or lines available
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
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
The Jackson Laboratory