| Primary Identifier | MGI:3693364 | Allele Type | Transgenic |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Tg(PSEN1H163R)G9Btla |
| Transmission | Germline | Strain of Origin | 129S4/SvJae |
| Is Recombinase | false | Is Wild Type | false |
| description | The transgene construct was injected into embryonic stem (ES) cells. |
| molecularNote | 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. |
