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C57BL/6JCya-Spg7em1flox/Cya
Common Name:
Spg7-flox
Product ID:
S-CKO-07777
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Spg7-flox
Strain ID
CKOCMP-234847-Spg7-B6J-VA
Gene Name
Spg7
Product ID
S-CKO-07777
Gene Alias
Cmar; PGN
Background
C57BL/6JCya
NCBI ID
234847
Modification
Conditional knockout
Chromosome
8
Phenotype
MGI:2385906
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Spg7em1flox/Cya mice (Catalog S-CKO-07777) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000149248
NCBI RefSeq
NM_153176
Target Region
Exon 5
Size of Effective Region
~0.6 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Spg7, also known as paraplegin, encodes a mitochondrial metalloprotease. Under normal physiological conditions, the inner mitochondrial membrane proteins, AFG3L2 and SPG7, are tethered to prohibitin 1 (PHB1) to inhibit the opening of the mitochondrial permeability transition pore (mPTP) [1]. SPG7 is associated with hereditary spastic paraparesis, a group of inherited neurological diseases with wide genetic heterogeneity, especially when associated with cerebellar ataxia [2].

Compound heterozygous mutations in SPG7 have been found in patients with cerebellar degeneration, ataxia, and impaired emotional communication, expanding the phenotypic boundary of SPG7 [3]. In a cohort of patients with hereditary ataxia, SPG7 was among the most common causative genes [4]. Heterozygous SPG7 mutations have been identified in amyotrophic lateral sclerosis (ALS) patients, and these patients more frequently presented with cerebellar symptoms, flail arm or leg syndrome, and showed partial clinical overlap with hereditary spastic paraplegia (HSP) [5]. SPG7 pathogenic variants can also cause autosomal recessive hereditary spastic paraplegia, and various ophthalmological findings have been reported in patients with spastic paraplegia type 7 [6]. Additionally, SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases [7].

In conclusion, Spg7 is crucial for maintaining mitochondrial function by regulating mPTP opening. Studies on Spg7-related genetic mutations in various diseases, such as hereditary spastic paraparesis, cerebellar ataxia, and ALS, have deepened our understanding of the gene's role in these neurological disorders. These findings provide insights into the underlying mechanisms of these diseases and may potentially guide future therapeutic strategies.

References:
1. Liu, Hao, Fan, Hualin, He, Pengcheng, Zhao, Guojun, Feng, Du. 2022. Prohibitin 1 regulates mtDNA release and downstream inflammatory responses. In The EMBO journal, 41, e111173. doi:10.15252/embj.2022111173. https://pubmed.ncbi.nlm.nih.gov/36245295/
2. Lallemant-Dudek, P, Durr, A. 2020. Clinical and genetic update of hereditary spastic paraparesis. In Revue neurologique, 177, 550-556. doi:10.1016/j.neurol.2020.07.001. https://pubmed.ncbi.nlm.nih.gov/32807405/
3. Zhang, Linwei, McFarland, Karen N, Subramony, S H, Heilman, Kenneth M, Ashizawa, Tetsuo. . SPG7 and Impaired Emotional Communication. In Cerebellum (London, England), 16, 595-598. doi:10.1007/s12311-016-0818-5. https://pubmed.ncbi.nlm.nih.gov/27557734/
4. Galatolo, Daniele, De Michele, Giovanna, Silvestri, Gabriella, Filla, Alessandro, Santorelli, Filippo Maria. 2021. NGS in Hereditary Ataxia: When Rare Becomes Frequent. In International journal of molecular sciences, 22, . doi:10.3390/ijms22168490. https://pubmed.ncbi.nlm.nih.gov/34445196/
5. Osmanovic, Alma, Widjaja, Maylin, Förster, Alisa, Petri, Susanne, Weber, Ruthild G. 2020. SPG7 mutations in amyotrophic lateral sclerosis: a genetic link to hereditary spastic paraplegia. In Journal of neurology, 267, 2732-2743. doi:10.1007/s00415-020-09861-w. https://pubmed.ncbi.nlm.nih.gov/32447552/
6. Seo, Yuri, Lim, Hyun Taek, Lee, Byung Joo, Han, Jinu. 2022. Expanding SPG7 dominant optic atrophy phenotype: Infantile nystagmus and optic atrophy without spastic paraplegia. In American journal of medical genetics. Part A, 191, 582-585. doi:10.1002/ajmg.a.63037. https://pubmed.ncbi.nlm.nih.gov/36367250/
7. Choquet, Karine, Tétreault, Martine, Yang, Sharon, Majewski, Jacek, Brais, Bernard. 2015. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. In European journal of human genetics : EJHG, 24, 1016-21. doi:10.1038/ejhg.2015.240. https://pubmed.ncbi.nlm.nih.gov/26626314/
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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