| Primary Identifier | MGI:2447854 | Allele Type | Transgenic |
| Attribute String | Humanized sequence, Inserted expressed sequence | Gene | Tg(Pcp2-ATXN1*82Q)5Horr |
| Strain of Origin | FVB/N | Is Recombinase | false |
| Is Wild Type | false |
| description | Six transgenic lines were created carrying between 5-50 copies of the integrated transgene. All lines expressed transgene mRNA, but no protein product. |
| molecularNote | The transgene consists of a mouse Pcp2 promoter and a human mutant SCA1 cDNA sequence with 82 CAG repeats. The 835 bp fragment of mouse Pcp2 regulatory sequence include exon 1, intron 1, and part of exon 2 of Pcp2. The Pcp2 promoter targets transgene expression to Purkinje cells. Transgene expression was confirmed by Northern blot analysis of cerebellar extracts. However, Western blot analysis did not detect mutant protein in any of the six transgenic lines. PCR analysis showed CAG repeat instability in some of the transgenic lines. Authors presume rearrangement of CAG repeats in some of the tandemly arrayed transgene copies occurred during integration. |
