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Tg(ATXN3*)84.2Cce
Transgene Detail
Nomenclature
Symbol: Tg(ATXN3*)84.2Cce
Name: transgene insertion 84.2, Cemal K Cemal
MGI ID: MGI:3838155
Synonyms: MJD84.2, SCA3-YAC-84Q
Transgene: Tg(ATXN3*)84.2Cce  Location: unknown  
Transgene
origin
Strain of Origin:  (C57BL/6J x CBA/Ca)F2
Transgene
description
Transgene Type:    Transgenic (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Tg(ATXN3*)84.2Cce expresses 1 gene
 
Mutation detailsA 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 84. Two copies of the transgene inserted into this line with the number of CAG repeats for both copies confirmed by sequencing (a second founder line, 84.1, had insertion of 2 transgenes with variant triplets and altered repeat numbers). Transgene expression was detected in the cerebellum at endogenous levels and was also detected in the cerebral cortex, heart, and skeletal muscle. (J:76495)
Phenotypes
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Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
References
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
All:  4 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/12/2015
MGI 5.21
The Jackson Laboratory