Tg(Pcp2-ATXN1*82Q*V591A*S602D)1BHorr
Transgene Detail
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| Symbol: |
Tg(Pcp2-ATXN1*82Q*V591A*S602D)1BHorr |
| Name: |
transgene insertion 1B, Harry T Orr |
| MGI ID: |
MGI:6113692 |
| Synonyms: |
PCP2-ATXN1[82Q]V591A;S602D |
| Transgene: |
Tg(Pcp2-ATXN1*82Q*V591A*S602D)1BHorr Location: unknown
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| Alliance: |
Tg(Pcp2-ATXN1*82Q*V591A*S602D)1BHorr page
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| Transgene Type: |
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Transgenic (Humanized sequence, Inserted expressed sequence) |
| Mutation: |
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Insertion
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Tg(Pcp2-ATXN1*82Q*V591A*S602D)1BHorr expresses
1 gene
Transgene expresses:
| Organism |
Expressed Gene |
Homolog in Mouse |
Note |
| human |
ATXN1 (6310) |
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expresses a human ATXN1 cDNA with 82 CAG repeats and a valine to alanine change at amino acid 591 (V591A) and serine to aspartic acid at posistion 602 (S602D) |
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Tg(Pcp2-ATXN1*82Q*V591A*S602D)1BHorr expression driven by
1 gene
Transgene expression driven by:
| Organism |
Driver Gene |
Note |
| mouse |
Pcp2 (MGI:97508) |
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Mutation details: The transgene consists of a mouse Pcp2 promoter driving the expression of a human ATXN1 (SCA1) cDNA with 82 CAG repeats and a valine to alanine change at amino acid 591 (V591A) and serine to aspartic acid at posistion 602 (S602D). This is the high expressing line. The Pcp2 promoter targets transgene expression to Purkinje cells.
(J:261279)
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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:261279 Rousseaux MWC, et al., ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. 2018 Mar 21;97(6):1235-1243.e5 |
| All: |
2 reference(s) |
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Analysis Tools
