Tg(Pcp2-ATXN1*30Q*S776D)2Horr
Transgene Detail
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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
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Alliance: |
Tg(Pcp2-ATXN1*30Q*S776D)2Horr page
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Strain of Origin: |
Not Specified
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Transgene Type: |
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Transgenic (Inserted expressed sequence) |
Mutation: |
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Insertion
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Tg(Pcp2-ATXN1*30Q*S776D)2Horr expresses
1 gene
Transgene expresses:
Organism |
Expressed Gene |
Homolog in Mouse |
Note |
human |
ATXN1 (6310) |
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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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) |
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