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C57BL/6JCya-Spastem1flox/Cya
Common Name:
Spast-flox
Product ID:
S-CKO-11408
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Spast-flox
Strain ID
CKOCMP-50850-Spast-B6J-VA
Gene Name
Spast
Product ID
S-CKO-11408
Gene Alias
Spg4; mKIAA1083
Background
C57BL/6JCya
NCBI ID
50850
Modification
Conditional knockout
Chromosome
17
Phenotype
MGI:1858896
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-Spastem1flox/Cya mice (Catalog S-CKO-11408) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000024869
NCBI RefSeq
NM_001162870
Target Region
Exon 5
Size of Effective Region
~0.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Spast, encoded by the SPAST gene, is a microtubule-severing enzyme, being a member of the ATPases Associated with a variety of cellular Activity (AAA) family [1,9]. Its normal function is crucial for the proper maintenance and function of microtubules, which are involved in numerous cellular processes such as intracellular transport, cell division, and axonal elongation. Mutations in the SPAST gene are the chief cause of Hereditary Spastic Paraplegia (HSP), particularly SPG4-HSP [1].

There is controversy regarding the disease etiology. One view is that haploinsufficiency does not directly cause the disease but makes the corticospinal tracts vulnerable to a "second hit", often the mutant spastin proteins [2]. Intragenic copy-number variations (CNVs) in SPAST can lead to HSP via a haploinsufficiency mechanism [4]. Different mutations in SPAST, like an AluYb9 insertion in intron 16 causing splicing alteration [3], or a p.Arg499His mutation associated with infantile-onset complicated spastic paraplegia [5], contribute to the disease phenotype. Also, a novel c.1751A > G p.(Asp584Gly) variant in SPAST was found in an isolated case of SPG4 [6], and a new intragenic microdeletion in exon 13 was likely pathogenic [9]. Patient-derived stem cells and non-neuronal cells (PBMCs) from HSP-SPAST patients have shown reduced levels of acetylated α-tubulin, a form of stabilized microtubules [7,8].

In conclusion, Spast is essential for microtubule-related cellular functions. Studies, including those on gene mutations and using patient-derived cells, have revealed its significant role in the pathogenesis of Hereditary Spastic Paraplegia. Understanding Spast's function and the effects of its mutations helps in developing potential therapeutic strategies for HSP patients [1].

References:
1. Mohan, Neha, Qiang, Liang, Morfini, Gerardo, Baas, Peter W. 2021. Therapeutic Strategies for Mutant SPAST-Based Hereditary Spastic Paraplegia. In Brain sciences, 11, . doi:10.3390/brainsci11081081. https://pubmed.ncbi.nlm.nih.gov/34439700/
2. Qiang, Liang, Piermarini, Emanuela, Baas, Peter W. 2019. New hypothesis for the etiology of SPAST-based hereditary spastic paraplegia. In Cytoskeleton (Hoboken, N.J.), 76, 289-297. doi:10.1002/cm.21528. https://pubmed.ncbi.nlm.nih.gov/31108029/
3. Chen, Yi-Jun, Wang, Meng-Wen, Qiu, Yu-Sen, Lin, Xiang, Chen, Wan-Jin. 2023. Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia. In Movement disorders : official journal of the Movement Disorder Society, 38, 1750-1755. doi:10.1002/mds.29522. https://pubmed.ncbi.nlm.nih.gov/37394769/
4. Elert-Dobkowska, Ewelina, Stepniak, Iwona, Radziwonik-Fraczyk, Wiktoria, Beetz, Christian, Sulek, Anna. 2024. SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism. In International journal of molecular sciences, 25, . doi:10.3390/ijms25095008. https://pubmed.ncbi.nlm.nih.gov/38732227/
5. Nan, Haitian, Shiraku, Hiroshi, Mizuno, Tomoko, Takiyama, Yoshihisa. 2021. A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature. In BMC neurology, 21, 439. doi:10.1186/s12883-021-02478-0. https://pubmed.ncbi.nlm.nih.gov/34753439/
6. Høyer, Helle, Nakken, Ola, Holmøy, Trygve. 2023. A Novel SPAST Variant Associated with Isolated Spastic Paraplegia. In Case reports in genetics, 2023, 4553365. doi:10.1155/2023/4553365. https://pubmed.ncbi.nlm.nih.gov/38186854/
7. Wali, Gautam, Sue, Carolyn M, Mackay-Sim, Alan. 2018. Patient-Derived Stem Cell Models in SPAST HSP: Disease Modelling and Drug Discovery. In Brain sciences, 8, . doi:10.3390/brainsci8080142. https://pubmed.ncbi.nlm.nih.gov/30065201/
8. Wali, Gautam, Siow, Sue-Faye, Liyanage, Erandhi, Mackay-Sim, Alan, Sue, Carolyn M. 2023. Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs. In Frontiers in neuroscience, 17, 1073516. doi:10.3389/fnins.2023.1073516. https://pubmed.ncbi.nlm.nih.gov/37144097/
9. Verriello, Lorenzo, Lonigro, Incoronata Renata, Pessa, Maria Elena, Gigli, Gian Luigi, Curcio, Francesco. 2021. Amplifying the spectrum of SPAST gene mutations. In Acta bio-medica : Atenei Parmensis, 92, e2021220. doi:10.23750/abm.v92iS1.11608. https://pubmed.ncbi.nlm.nih.gov/35132972/
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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