MGI phenotypes (allele matching)
B6CB-Tg(ATXN3*)84.2Cce/H
| Status | Available to order |
| EMMA ID | EM:00385 |
| Citation information | RRID:IMSR_EM:00385 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| 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