C57BL/6NCya-Arsaem1/Cya
Common Name:
Arsa-KO
Product ID:
S-KO-01147
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Arsa-KO
Strain ID
KOCMP-11883-Arsa-B6N-VA
Gene Name
Product ID
S-KO-01147
Gene Alias
AS-A; ASA; As-2; As2; TISP73
Background
C57BL/6NCya
NCBI ID
Modification
Conventional knockout
Chromosome
15
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Arsaem1/Cya mice (Catalog S-KO-01147) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000165199
NCBI RefSeq
NM_009713
Target Region
Exon 2~9
Size of Effective Region
~2.5 kb
Detailed Document
Overview of Gene Research
Arsa, short for arylsulfatase A gene, codes for the lysosomal enzyme arylsulfatase A. This enzyme is crucial as its deficiency leads to metachromatic leukodystrophy, a neurodegenerative disorder characterized by progressive demyelination of the central and peripheral nervous systems [1,2].
Mutations in Arsa are the main cause of metachromatic leukodystrophy, with the severity of the disease determined by the residual Arsa activity depending on the mutation type [2]. Some studies suggest that rare functional and loss-of-function Arsa variants may be associated with Parkinson's disease, though results need further replication in large cohorts [3,4]. Additionally, gene therapy using vectors encoding the wild-type Arsa gene shows promise in treating metachromatic leukodystrophy [2,5,6].
In conclusion, Arsa is essential for maintaining the normal function of the nervous system by encoding arylsulfatase A. Research on Arsa, especially through gene-based therapeutic approaches, has significant implications for treating metachromatic leukodystrophy. The potential association with Parkinson's disease also warrants further investigation to understand its role in this neurodegenerative disorder.
References:
1. Cesani, Martina, Lorioli, Laura, Grossi, Serena, Filocamo, Mirella, Biffi, Alessandra. 2015. Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy. In Human mutation, 37, 16-27. doi:10.1002/humu.22919. https://pubmed.ncbi.nlm.nih.gov/26462614/
2. Shaimardanova, Alisa A, Chulpanova, Daria S, Solovyeva, Valeriya V, Allegrucci, Cinzia, Rizvanov, Albert A. 2020. Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. In Frontiers in medicine, 7, 576221. doi:10.3389/fmed.2020.576221. https://pubmed.ncbi.nlm.nih.gov/33195324/
3. Senkevich, Konstantin, Beletskaia, Mariia, Dworkind, Aliza, Pchelina, Sofya, Gan-Or, Ziv. 2023. Association of Rare Variants in ARSA with Parkinson's Disease. In Movement disorders : official journal of the Movement Disorder Society, 38, 1806-1812. doi:10.1002/mds.29521. https://pubmed.ncbi.nlm.nih.gov/37381728/
4. Senkevich, Konstantin, Beletskaia, Mariia, Dworkind, Aliza, Pchelina, Sofya, Gan-Or, Ziv. 2023. Association of rare variants in ARSA with Parkinson's disease. In medRxiv : the preprint server for health sciences, , . doi:10.1101/2023.03.08.23286773. https://pubmed.ncbi.nlm.nih.gov/36993451/
5. Fumagalli, Francesca, Calbi, Valeria, Natali Sora, Maria Grazia, Biffi, Alessandra, Aiuti, Alessandro. . Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access. In Lancet (London, England), 399, 372-383. doi:10.1016/S0140-6736(21)02017-1. https://pubmed.ncbi.nlm.nih.gov/35065785/
6. Biffi, Alessandra, Montini, Eugenio, Lorioli, Laura, Sessa, Maria, Naldini, Luigi. 2013. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. In Science (New York, N.Y.), 341, 1233158. doi:10.1126/science.1233158. https://pubmed.ncbi.nlm.nih.gov/23845948/
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