MGI phenotypes (allele matching)
B6CB-Tg(ATXN3*)84.2Cce/H
| Status | Available to order |
| EMMA ID | EM:00385 |
| International strain name | B6CB-Tg(ATXN3*)84.2Cce/H |
| Alternative name | C57BL/6:CBA-Tg(MJD1)MJD84.2Ma |
| Strain type | Transgenic Strains |
| Allele/Transgene symbol | Tg(ATXN3*)84.2Cce |
| Gene/Transgene symbol | Tg(ATXN3*)84.2Cce |
Information from provider
| Provider | Cemal K. Cemal |
| Provider affiliation | Imperial College London |
| Genetic information | The construct contains a 250kb human Machado-Joseph disease (MJD1) genomic YAC clone, containing 84 polyglutamine-encoding CAG repeats within exon 10 of the gene. |
| Phenotypic information | Mice carrying this transgene exhibit slowly progressive cerebellar deficit from 4 weeks of age, a wide flattened gait, clasping of the fore limbs, neuronal loss, gliosis and neuronal intranuclear inclusions present in the pons and cerebellum and peripheral nerve demyelination. |
| References |
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Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Literature references
- YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.;Cemal Cemal K, Carroll Christopher J, Lawrence Lorraine, Lowrie Margaret B, Ruddle Piers, Al-Mahdawi Sahar, King Rosalind H M, Pook Mark A, Huxley Clare, Chamberlain Susan, ;2002;Human molecular genetics;11;1075-94; 11978767