IMPC phenotypes (gene matching)
B6.129S2-Atxn3Gt(A041D06)Wrst/Ieg
| Status | Available to order |
| EMMA ID | EM:05696 |
| Citation information | RRID:IMSR_EM:05696 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 | B6.129S2-Atxn3Gt(A041D06)Wrst/Ieg |
| Alternative name | Atxn3 (ataxin 3) |
| Strain type | Gene-trap |
| Allele/Transgene symbol | Atxn3Gt(A041D06)Wrst |
| Gene/Transgene symbol | Atxn3 |
Information from provider
| Provider | Franz Vauti |
| Provider affiliation | Cell- & Molecular Biology, Technical University of Braunschweig |
| Genetic information | Atxn3 Gt PT1betageo. |
| Phenotypic information | Neurobiological phenotype. |
| Breeding history | Backcrossed into C57BL/6 (N>7). |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
| Animals used for archiving | heterozygous C57BL/6J males |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Machado-Joseph disease type 3 / Orphanet_276244
- Machado-Joseph disease type 2 / Orphanet_276241
- Machado-Joseph disease type 1 / Orphanet_276238
MGI phenotypes (gene matching)
- Purkinje cell degeneration / MGI
- abnormal Purkinje cell morphology / MGI
- impaired coordination / MGI
- decreased exploration in new environment / MGI
- neurodegeneration / MGI
- decreased vertical activity / MGI
- astrocytosis / MGI
- nervous system phenotype / MGI
- neuronal intranuclear inclusions / MGI
- behavior/neurological phenotype / MGI
- neuronal cytoplasmic inclusions / MGI
Literature references
- A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome.;Hansen Jens, Floss Thomas, Van Sloun Petra, Füchtbauer Ernst-Martin, Vauti Franz, Arnold Hans-Hennig, Schnütgen Frank, Wurst Wolfgang, von Melchner Harald, Ruiz Patricia, ;2003;Proceedings of the National Academy of Sciences of the United States of America;100;9918-22; 12904583
- Establishment of a gene-trap sequence tag library to generate mutant mice from embryonic stem cells.;Wiles M V, Vauti F, Otte J, Füchtbauer E M, Ruiz P, Füchtbauer A, Arnold H H, Lehrach H, Metz T, von Melchner H, Wurst W, ;2000;Nature genetics;24;13-4; 10615117
- N-terminal ataxin-3 causes neurological symptoms with inclusions, endoplasmic reticulum stress and ribosomal dislocation.;Hübener Jeannette, Vauti Franz, Funke Claudia, Wolburg Hartwig, Ye Yihong, Schmidt Thorsten, Wolburg-Buchholz Karen, Schmitt Ina, Gardyan Adriane, Driessen Stefan, Arnold Hans-Henning, Nguyen Huu Phuc, Riess Olaf, ;2011;Brain : a journal of neurology;134;1925-42; 21653538