Tg(Pcp2-ATXN1*82Q)5Horr

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Species

Mus musculus

Symbol

Tg(Pcp2-ATXN1*82Q)5Horr

Category

allele

Allele of gene

None

Transgenic Constructs

Synonyms

• ataxin-1-82Q
• ATXN1[82Q]-S776

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Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations