B6.129S2-Atxn2^tm2.1Aub/Ph

Status	Available to order
EMMA ID	EM:10693
Citation information	RRID:IMSR_EM:10693 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-Atxn2^tm2.1Aub/Ph
Alternative name	Atxn2-CAG42-knockin
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Atxn2^tm2.1Aub
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	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
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 males

Disease and phenotype information

MGI allele-associated human disease models

spinocerebellar ataxia type 2 / DOID:0050955

Orphanet associated rare diseases, based on orthologous gene matching

Spinocerebellar ataxia type 2 / Orphanet_98756

MGI phenotypes (gene matching)

abnormal abdominal fat pad morphology / MGI
abnormal Purkinje cell morphology / MGI
increased body weight / MGI
decreased body weight / MGI
hyperactivity / MGI
impaired coordination / MGI
abnormal lipid level / MGI
reduced fertility / MGI
decreased litter size / MGI
increased circulating insulin level / MGI
hepatic steatosis / MGI
enlarged seminal vesicle / MGI
increased insulin secretion / MGI
nervous system phenotype / MGI
increased pancreatic beta cell number / MGI
increased circulating cholesterol level / MGI
behavior/neurological phenotype / MGI
intrahepatic cholestasis / MGI
increased susceptibility to weight gain / MGI
pancreatic islet hyperplasia / MGI
decreased circulating glucose level / MGI
increased gonadal fat pad weight / MGI
increased liver glycogen level / MGI
prenatal lethality, incomplete penetrance / MGI

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
Ataxin-2 polyglutamine expansions aberrantly sequester TDP-43 ribonucleoprotein condensates disrupting mRNA transport and local translation in neurons.;Wijegunawardana Denethi, Nayak Asima, Vishal Sonali S, Venkatesh Neha, Gopal Pallavi P, ;2025;Developmental cell;60;253-269.e5; 39419034

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

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Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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B6.129S2-Atxn2tm2.1Aub/Ph