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Apptm3.1Zhe
Targeted Allele Detail
Nomenclature
Symbol: Apptm3.1Zhe
Name: amyloid beta (A4) precursor protein; targeted mutation 3.1, Hui Zheng
MGI ID: MGI:4847574
Synonyms: APP/hAbeta/mutC, APPki
Gene: App  Location: Chr16:84954440-85173707 bp, - strand  Genetic Position: Chr16, 46.92 cM, cytoband C3-qter
Amyloid beta deposits in Apptm3.1Zhe/Apptm3.1Zhe Psen1tm1Mpm/Psen1tm1Mpm mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:166379
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Apptm3.1Zhe expresses 1 gene
 
Mutation detailsExons 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)
Generation of the Apptm3.1Zhe allele
Phenotypes
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View phenotypes for all genotypes (concatenated display).
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:  10 strains or lines available
References
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
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory