Summary | Transgene origin | Transgene description | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Tg(PSEN1H163R)G9Btla
Name:	transgene insertion G9, Bruce Lamb
MGI ID:	MGI:3693364
Synonyms:	H163R mutant PS-1 YAC, H163R mutant PS-1 YAC transgenic mouse (line G9), (H163R) PS-1 YAC, PS-1 YAC transgenic line G9
Transgene:	Tg(PSEN1H163R)G9Btla  Location: unknown
Alliance:	Tg(PSEN1H163R)G9Btla page

Germline Transmission:	Earliest citation of germline transmission: J:58050
Parent Cell Line:	J1 (ES Cell)
Strain of Origin:	129S4/SvJae

Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence) Mutation:    Insertion   Tg(PSEN1H163R)G9Btla expresses 1 gene Transgene expresses: Organism Expressed Gene Homolog in Mouse Note human PSEN1 (5663) Psen1  (MGI:1202717)   Mutation details: A 1000 kb YAC transgene (788H12) containing the entire human presenilin-1 gene was altered to include the Familial Alzheimer's Disease- (FAD-) associated histidine-to-arginine substitution at amino acid position 163 (H163R). The transgene also includes approximately 550 kb of upstream and 350 kb of downstream flanking DNA. Semi-quantitative RT-PCR of multiple tissues shows expression of H163R mutant human mRNA at 50-70% of the level of wild-type mouse transcripts. Transgenic tissues express a wide spectrum of human presenilin-1 mRNA and protein species; alternatively spliced human mRNAs encoding presenilin 1, with or without the tetrapeptide VRSQ, are detected, and western blot analysis reveals accumulation of an 18-kDa C-terminal peptide. (J:58050)

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

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available

Original:	J:58050 Lamb BA, et al., Amyloid production and deposition in mutant amyloid precursor protein and presenilin-1 yeast artificial chromosome transgenic mice. Nat Neurosci. 1999 Aug;2(8):695-7
All:	1 reference(s)