Tg(Pcp2-ATXN1*30Q*S776D)2Horr
Transgene Detail

Summary

• Symbol: Tg(Pcp2-ATXN1*30Q*S776D)2Horr
• Name: transgene insertion 2, Harry T Orr
• MGI ID: MGI:5518614
• Synonyms: ATXN1[30Q]-D776
• Transgene: Tg(Pcp2-ATXN1*30Q*S776D)2Horr Location: unknown
• Alliance: Tg(Pcp2-ATXN1*30Q*S776D)2Horr page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(Pcp2-ATXN1*30Q*S776D)2Horr 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 driving the expression of a human ATXN1 (SCA1) cDNA with 30 CAG repeats and a serine to aspartic acid change at amino acid 776 (S776D). The Pcp2 promoter targets transgene expression to Purkinje cells. Transgene expression was confirmed by Western blot analysis of cerebellar extracts. (J:166951)

Expression

In Structures Affected by this Mutation:

1 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

References

• Original: J:166951 Duvick L, et al., SCA1-like disease in mice expressing wild-type ataxin-1 with a serine to aspartic acid replacement at residue 776. Neuron. 2010 Sep 23;67(6):929-35
• All: 6 reference(s)