App^tm1Cep
Targeted Allele Detail

Summary

• Symbol: App^tm1Cep
• Name: amyloid beta precursor protein; targeted mutation 1, Cephalon
• MGI ID: MGI:2652342
• Synonyms: APP^nNLH
• Gene: App Location: Chr16:84751236-84972187 bp, - strand Genetic Position: Chr16, 46.92 cM, cytoband C3-qter
• Alliance: App^tm1Cep page

Mutation origin

• 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⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• 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 App^tm1.1Cep, in which the neo cassette had been removed. (J:35500)

Disease models

Find Mice (IMSR)

• 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: 105 strains or lines available

References

• 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)