C57BL/6JCya-Atxn1em1flox/Cya
Common Name
Atxn1-flox
Product ID
S-CKO-04921
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-20238-Atxn1-B6J-VA
When using this mouse strain in a publication, please cite “Atxn1-flox Mouse (Catalog S-CKO-04921) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
Basic Information
Strain Name
Atxn1-flox
Strain ID
CKOCMP-20238-Atxn1-B6J-VA
Gene Name
Product ID
S-CKO-04921
Gene Alias
Atx1, Sca1, Gm10786, 2900016G23Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
Chr 13
Phenotype
Datasheet
Application
--
Strain Description
Ensembl Number
ENSMUST00000180110
NCBI RefSeq
NM_001199305
Target Region
Exon 7
Size of Effective Region
~2.6 kb
Overview of Gene Research
Atxn1, also known as Ataxin-1, is a dosage-sensitive gene with its expression regulation being crucial. While its exact normal function remains to be fully elucidated, it is known to be associated with several neurodegenerative diseases. Pathological polyQ expansion in ATXN1, such as that causing spinocerebellar ataxia type 1 (SCA1), leads to abnormal protein-protein interactions (PPI) [1].
In SCA1 mouse models, Cas9 editing of ATXN1 has shown potential as a treatment approach. A 20% reduction of ATXN1 in the B05 mouse model improved behavior deficits without increasing inflammatory markers, and this approach was also confirmed in human iPSC-derived neurons from SCA1 patients [2]. Additionally, developing a mouse with an amino acid alteration (K772T) in the nuclear localization sequence of expanded ATXN1 protein demonstrated that proper nuclear localization of mutant ATXN1 contributes to many SCA1-like phenotypes including motor and cognitive deficits, and premature lethality [3].
In conclusion, Atxn1 plays a significant role in neurodegenerative diseases, especially SCA1. Mouse models, including those with gene editing and amino-acid alterations, have provided valuable insights into the disease mechanisms related to Atxn1, which may guide the development of therapeutic strategies for SCA1.
References：
1. Rocha, Sara, Vieira, Jorge, Vázquez, Noé, Sousa, André D, Vieira, Cristina P. 2019. ATXN1 N-terminal region explains the binding differences of wild-type and expanded forms. In BMC medical genomics, 12, 145. doi:10.1186/s12920-019-0594-4. https://pubmed.ncbi.nlm.nih.gov/31655597/
2. Fagan, Kelly J, Chillon, Guillem, Carrell, Ellie M, Waxman, Elisa A, Davidson, Beverly L. 2024. Cas9 editing of ATXN1 in a spinocerebellar ataxia type 1 mice and human iPSC-derived neurons. In Molecular therapy. Nucleic acids, 35, 102317. doi:10.1016/j.omtn.2024.102317. https://pubmed.ncbi.nlm.nih.gov/39314800/
3. Handler, Hillary P, Duvick, Lisa, Mitchell, Jason S, Zoghbi, Huda Y, Orr, Harry T. 2022. Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles. In Neuron, 111, 493-507.e6. doi:10.1016/j.neuron.2022.11.017. https://pubmed.ncbi.nlm.nih.gov/36577403/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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