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C57BL/6JCya-Scamp5em1/Cya
Common Name:
Scamp5-KO
Product ID:
S-KO-19407
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Scamp5-KO
Strain ID
KOCMP-56807-Scamp5-B6J-VB
Gene Name
Scamp5
Product ID
S-KO-19407
Gene Alias
Sc5
Background
C57BL/6JCya
NCBI ID
56807
Modification
Conventional knockout
Chromosome
9
Phenotype
MGI:1928948
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-Scamp5em1/Cya mice (Catalog S-KO-19407) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000046587
NCBI RefSeq
NM_020270
Target Region
Exon 4
Size of Effective Region
~1.4 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Scamp5, a member of the secretory carrier membrane protein family, is highly expressed in the brain. It participates in membrane transport, regulating the exocytosis of synaptic vesicles (SVs), and is related to secretion carrier and membrane function. It plays a major role in maintaining the normal physiological functions of nerve cells and is involved in pathways such as synaptic function regulation, endocytosis, and exocytosis [1].

In functional studies, knockdown of Scamp5 in cultured rat hippocampal neurons led to a reduction in total and recycling vesicle pool sizes, slowed endocytosis, and impaired it during strong stimulation, suggesting its crucial role in SV endocytosis during high neuronal activity [2].

In Scamp5 R91W mutant knock-in mice, typical early-onset epilepsy similar to human pediatric epilepsy was observed, along with dysregulation of neurotransmitter release, indicating that Scamp5 deficiency can lead to pediatric epilepsy [3].

A de novo Scamp5 mutation in a Drosophila model caused similar phenotypes as Scamp5 RNAi, suggesting a dominant-negative effect and identifying Scamp5 deficiency as a cause for autistic spectrum disorders and intellectual disability [4].

In conclusion, Scamp5 is essential for normal nerve cell function, particularly in synaptic vesicle trafficking processes like endocytosis and exocytosis. Studies using gene-knockout models in mice and in vivo studies in Drosophila have revealed its significant role in diseases such as pediatric epilepsy, autistic spectrum disorders, and related neurodevelopmental disorders. These findings help to better understand the pathogenesis of these neurological diseases.

References:
1. Chen, Ye, Fan, Jiali, Xiao, Dongqiong, Li, Xihong. 2022. The role of SCAMP5 in central nervous system diseases. In Neurological research, 44, 1024-1037. doi:10.1080/01616412.2022.2107754. https://pubmed.ncbi.nlm.nih.gov/36217917/
2. Zhao, Haiyan, Kim, Yoonju, Park, Joohyun, Chang, Iree, Chang, Sunghoe. . SCAMP5 plays a critical role in synaptic vesicle endocytosis during high neuronal activity. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 34, 10085-95. doi:10.1523/JNEUROSCI.2156-14.2014. https://pubmed.ncbi.nlm.nih.gov/25057210/
3. Zhang, Dazhi, Yuan, Chao, Liu, Mengxue, Yang, Xiaofei, Zhang, Xianqin. 2020. Deficiency of SCAMP5 leads to pediatric epilepsy and dysregulation of neurotransmitter release in the brain. In Human genetics, 139, 545-555. doi:10.1007/s00439-020-02123-9. https://pubmed.ncbi.nlm.nih.gov/32020363/
4. Hubert, Laurence, Cannata Serio, Magda, Villoing-Gaudé, Laure, Simons, Matias, Besmond, Claude. 2019. De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures. In Journal of medical genetics, 57, 138-144. doi:10.1136/jmedgenet-2018-105927. https://pubmed.ncbi.nlm.nih.gov/31439720/
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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