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| Nomenclature |
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Symbol:
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Tg(ATXN3*)67.2Cce
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Name:
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transgene insertion 67.2, Cemal K Cemal
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MGI ID: |
MGI:3838156 |
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Synonyms: |
MJD67.2 |
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Transgene:
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Tg(ATXN3*)67.2Cce
Location:
unknown
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Transgene
origin |
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Strain of Origin:
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(C57BL/6J x CBA/Ca)F2
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Transgene
description |
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Transgene
Type: | |
Transgenic (random, expressed) |
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Mutation: | |
Insertion |
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Mutation details: A 250 kb YAC containing the intact human locus with 15 CAG trinucleotide repeats in exon 10 was modified by homologous recombination to expand the number of CAG repeats to 76. Two copies of the transgene inserted into this line with the number of CAG repeats for both copies truncated to 67 as determined by sequencing (a second founder line created with this construct, 72.1, had insertion of one transgene into the X chromosome with 72 CAG repeats). Transgene expression was detected in the cerebellum at endogenous levels and was also detected in the cerebral cortex, heart, and skeletal muscle. (J:76495)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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| References |
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Original: |
J:76495
Cemal CK et al.,
"YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit."
Hum Mol Genet 2002 May 1;11(9):1075-94
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All: |
2 reference(s)
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Analysis Tools
