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C57BL/6JCya-Tor1aem1flox/Cya
Common Name:
Tor1a-flox
Product ID:
S-CKO-10227
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Tor1a-flox
Strain ID
CKOCMP-30931-Tor1a-B6J-VA
Gene Name
Tor1a
Product ID
S-CKO-10227
Gene Alias
DQ2; Dyt1; torsinA
Background
C57BL/6JCya
NCBI ID
30931
Modification
Conditional knockout
Chromosome
2
Phenotype
MGI:1353568
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Tor1aem1flox/Cya mice (Catalog S-CKO-10227) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000028200
NCBI RefSeq
NM_144884
Target Region
Exon 3~4
Size of Effective Region
~1.2 kb
Detailed Document
Click here to download >>
Overview of Gene Research
TOR1A, also known as TorsinA, is a gene involved in the endoplasmic reticulum stress response pathway [4]. Variants in this gene are associated with various neurological disorders, highlighting its significance in normal neurological function [1,2,3,6,7,8,9]. Mouse models, especially gene knockout (KO) and conditional knockout (CKO) models, have been crucial in studying TOR1A's function [5].

In a Tor1a CKO mouse model where the gene was knocked out in the spinal cord and dorsal root ganglia (DRG), mice developed early-onset generalized torsional dystonia, recapitulating the human condition. This showed that spinal neural circuit dysfunction, especially affecting motor neurons, is a key pathophysiological substrate of DYT1-TOR1A dystonia [5]. Additionally, excess Lipin enzyme activity was found in human DYT-TOR1A dystonia patient cells and in Tor1a mouse models, and reducing Lpin1 in these models improved survival and suppressed neurodegeneration, motor dysfunction, and nuclear membrane pathology, suggesting abnormal phosphatidic acid metabolism in TOR1A-related diseases [9].

In conclusion, TOR1A plays a vital role in normal neurological function, particularly in motor control through spinal neural circuits. Mouse models have been instrumental in revealing its role in DYT-TOR1A dystonia and related diseases, and in identifying potential therapeutic targets such as Lipin enzyme activity [5,9].

References:
1. Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Houlden, Henry, Maroofian, Reza. . The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. In Brain : a journal of neurology, 146, 3273-3288. doi:10.1093/brain/awad039. https://pubmed.ncbi.nlm.nih.gov/36757831/
2. Siokas, Vasileios, Dardiotis, Efthimios, Tsironi, Evangelia E, Deretzi, Georgia, Hadjigeorgiou, Georgios M. 2017. The Role of TOR1A Polymorphisms in Dystonia: A Systematic Review and Meta-Analysis. In PloS one, 12, e0169934. doi:10.1371/journal.pone.0169934. https://pubmed.ncbi.nlm.nih.gov/28081261/
3. Gómez-Garre, Pilar, Jesús, Silvia, Periñán, María Teresa, Tejera-Parrado, Cristina, Mir, Pablo. 2020. Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review. In European journal of neurology, 28, 1188-1197. doi:10.1111/ene.14638. https://pubmed.ncbi.nlm.nih.gov/33175450/
4. Thomsen, Mirja, Lange, Lara M, Zech, Michael, Lohmann, Katja. 2023. Genetics and Pathogenesis of Dystonia. In Annual review of pathology, 19, 99-131. doi:10.1146/annurev-pathmechdis-051122-110756. https://pubmed.ncbi.nlm.nih.gov/37738511/
5. Pocratsky, Amanda M, Nascimento, Filipe, Özyurt, M Görkem, Beato, Marco, Brownstone, Robert M. 2023. Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction. In Science translational medicine, 15, eadg3904. doi:10.1126/scitranslmed.adg3904. https://pubmed.ncbi.nlm.nih.gov/37134150/
6. Koptielow, Jan, Szyłak, Emilia, Szewczyk-Roszczenko, Olga, Kułakowska, Alina, Chorąży, Monika. 2024. Genetic Update and Treatment for Dystonia. In International journal of molecular sciences, 25, . doi:10.3390/ijms25073571. https://pubmed.ncbi.nlm.nih.gov/38612382/
7. Van Coller, R, Schutte, C-M, Lubbe, E, Ngele, B. 2021. TOR1A mutation-related isolated childhood-onset generalised dystonia in South Africa. In South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 111, 946-949. doi:10.7196/SAMJ.2021.v111i10.15801. https://pubmed.ncbi.nlm.nih.gov/34949287/
8. Hanaoka, Yoshiyuki, Akiyama, Tomoyuki, Yoshinaga, Harumi, Kaji, Ryuji, Kobayashi, Katsuhiro. 2021. Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness. In Brain & development, 43, 783-788. doi:10.1016/j.braindev.2021.03.005. https://pubmed.ncbi.nlm.nih.gov/33832800/
9. Cascalho, Ana, Foroozandeh, Joyce, Hennebel, Lise, Seibler, Philip, Goodchild, Rose E. . Excess Lipin enzyme activity contributes to TOR1A recessive disease and DYT-TOR1A dystonia. In Brain : a journal of neurology, 143, 1746-1765. doi:10.1093/brain/awaa139. https://pubmed.ncbi.nlm.nih.gov/32516804/
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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