Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Apptm1Ini
Name:	amyloid beta precursor protein; targeted mutation 1, Ikuo Nishimoto
MGI ID:	MGI:3044176
Synonyms:	V642I-APP-KI
Gene:	App  Location: Chr16:84751236-84972187 bp, - strand  Genetic Position: Chr16, 46.92 cM, cytoband C3-qter
Alliance:	Apptm1Ini page

Germline Transmission:	Earliest citation of germline transmission: J:90296
Parent Cell Line:	TT2 (ES Cell)
Strain of Origin:	(C57BL/6NCrlj x CBA/JNCrlj)F1

Allele Type:    Targeted (Humanized sequence) Mutation:    Insertion   Mutation details: A point mutation was introduced into exon 17 causing a valine to isoleucine change at amino acid residue 642 (V642I) together with a floxed neomycin resistance gene in intron 17. The neomycin gene was subsequently excised from correctly targeted clones by transient cre expression. The mutation was confirmed in mice by genomic DNA sequencing. (J:90296, J:90561)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	89 strains or lines available

Original:	J:90296 Kawasumi M, et al., Targeted introduction of V642I mutation in amyloid precursor protein gene causes functional abnormality resembling early stage of Alzheimer's disease in aged mice. Eur J Neurosci. 2004 May;19(10):2826-38
All:	2 reference(s)