Tg(Pcp2-ATXN1*82Q)5Horr
Transgene Detail

Summary

• Symbol: Tg(Pcp2-ATXN1*82Q)5Horr
• Name: transgene insertion 5, Harry T Orr
• MGI ID: MGI:2447854
• Synonyms: ataxin-1-82Q, ATXN1[82Q]-S776, B02, B05, B05 SCA1, Pcp2-SCA1[82Q], PS-82, SCA1-82Q, SCA1[82Q], SCA1 B05, Tg(Pcp2-SCA1)PS82Horr
• Transgene: Tg(Pcp2-ATXN1*82Q)5Horr Location: unknown
• Alliance: Tg(Pcp2-ATXN1*82Q)5Horr page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Pcp2-ATXN1*82Q)5Horr expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  ATXN1 (6310)

  Atxn1

  (MGI:104783)

• Mutation details: 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. (J:28932)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• 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

Notes

Six transgenic lines were created carrying between 5-50 copies of the integrated transgene. All lines expressed transgene mRNA, but no protein product.

References

• Original: J:28932 Burright EN, et al., SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell. 1995 Sep 22;82(6):937-48
• All: 45 reference(s)