B6.129S2-Atxn2tm2.1Aub/Ph
| Status | Available to order |
| EMMA ID | EM:10693 |
| International strain name | B6.129S2-Atxn2tm2.1Aub/Ph |
| Alternative name | Atxn2-CAG42-knockin |
| Strain type | Targeted Mutant Strains : Knock-in |
| Allele/Transgene symbol | Atxn2tm2.1Aub, |
| Gene/Transgene symbol | Atxn2 |
Information from provider
| Provider | Georg Auburger |
| Provider affiliation | Experimental Neurology, Goethe University Medical School |
| Genetic information | As a model of the human neurodegenerative disease Spinocerebellar Ataxia type 2 (SCA2), a typical mutant triplet repeat size of (CAG)42 replaced the wild-type (CAG)1 at the corresponding site in the murine Atxn2 gene, as a knock-in by homologous recombination. |
| Phenotypic information | Homozygous:Slight cerebellar ataxia from the age of 12-24 months, depending on the inbred background (manifesting earlier in the C57BL/6 background).Heterozygous:Subtle cerebellar ataxia detectable in groups of mutant mice by objective accelerating rotarod tests by age 21 months. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institute of Molecular Genetics, Prague, Czech Republic |
| Animals used for archiving | heterozygous 0 |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Spinocerebellar ataxia type 2 / Orphanet_98756
Literature references
- ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice.;Damrath Ewa, Heck Melanie V, Gispert Suzana, Azizov Mekhman, Nowock Joachim, Seifried Carola, Rüb Udo, Walter Michael, Auburger Georg, ;2012;PLoS genetics;8;e1002920; 22956915
- Both ubiquitin ligases FBXW8 and PARK2 are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 expression is dysregulated.;Halbach Melanie Vanessa, Stehning Tanja, Damrath Ewa, Jendrach Marina, Şen Nesli Ece, Başak A Nazlı, Auburger Georg, ;2015;PloS one;10;e0121089; 25790475
- Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway.;Halbach Melanie Vanessa, Gispert Suzana, Stehning Tanja, Damrath Ewa, Walter Michael, Auburger Georg, ;2017;Cerebellum (London, England);16;68-81; 26868665