B6.129S2(Cg)-Atxn2tm3.1Aub/Aub
| Status | Available to order |
| EMMA ID | EM:13598 |
| International strain name | B6.129S2(Cg)-Atxn2tm3.1Aub/Aub |
| Alternative name | B6.129S2(Cg)-Atxn2 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Atxn2 |
| Gene/Transgene symbol | Atxn2 |
Information from provider
| Provider | Georg Auburger |
| Provider affiliation | Exp. Neurology, Medical Faculty, Goethe University |
| Genetic information | Knock-In of a CAG100 repeat expansion into the Atxn2 gene, to model the neurodegenerative disorder SCA2 (Spinocerebellar Ataxia type 2) |
| Phenotypic information | Homozygous:Survival shortened to ~14 months, progressive weight loss and motor deficits from 30 weeks of age, slightly reduced fertility.Heterozygous:Survival shortened to ~24 months, progressive weight loss and motor deficits after 14 months of age. |
| Breeding history | Generated at Genoway (Lyon, France) in 2016, the mouse line was since maintained under SPF conditions at the ZFE facility of Goethe University Medical Faculty (Frankfurt am Main, Germany), with cryopreservation of heterozygous sperm by Genoway in 2018. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
| Animals used for archiving | heterozygous C57BL/6 |
Literature references
- Mouse Ataxin-2 Expansion Downregulates CamKII and Other Calcium Signaling Factors, Impairing Granule-Purkinje Neuron Synaptic Strength.;Arsović Aleksandar, Halbach Melanie Vanessa, Canet-Pons Júlia, Esen-Sehir Dilhan, Döring Claudia, Freudenberg Florian, Czechowska Nicoletta, Seidel Kay, Baader Stephan L, Gispert Suzana, Sen Nesli-Ece, Auburger Georg, ;2020;International journal of molecular sciences;21;105289; 32932600
- In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.;Sen Nesli-Ece, Arsovic Aleksandar, Meierhofer David, Brodesser Susanne, Oberschmidt Carola, Canet-Pons Júlia, Kaya Zeynep-Ece, Halbach Melanie-Vanessa, Gispert Suzana, Sandhoff Konrad, Auburger Georg, ;2019;International journal of molecular sciences;20;104559; 31766565
- Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression.;Canet-Pons Júlia, Sen Nesli-Ece, Arsović Aleksandar, Almaguer-Mederos Luis-Enrique, Halbach Melanie V, Key Jana, Döring Claudia, Kerksiek Anja, Picchiarelli Gina, Cassel Raphaelle, René Frédérique, Dieterlé Stéphane, Fuchs Nina V, König Renate, Dupuis Luc, Lütjohann Dieter, Gispert Suzana, Auburger Georg, ;2021;Neurobiology of disease;152;3553-3567; 33577922
- Generation of an Atxn2-CAG100 knock-in mouse reveals N-acetylaspartate production deficit due to early Nat8l dysregulation.;Sen Nesli-Ece, Canet-Pons Júlia, Halbach Melanie V, Arsovic Aleksandar, Pilatus Ulrich, Chae Woon-Hyung, Kaya Zeynep-Ece, Seidel Kay, Rollmann Ewa, Mittelbronn Michel, Meierhofer David, De Zeeuw Chris I, Bosman Laurens W J, Gispert Suzana, Auburger Georg, ;2019;Neurobiology of disease;132;; 31376479
- TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2.;Bux Jessica, Sen Nesli Ece, Klink Isa-Maria, Hauser Stefan, Synofzik Matthis, Schöls Ludger, Auburger Georg, Riess Olaf, Hübener-Schmid Jeannette, ;2023;Molecular neurobiology;60;; 36894829