C57BL/6JCya-Scyl2em1/Cya
Common Name:
Scyl2-KO
Product ID:
S-KO-20082
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Scyl2-KO
Strain ID
KOCMP-213326-Scyl2-B6J-VB
Gene Name
Product ID
S-KO-20082
Gene Alias
CVAK104; D10Ertd802e
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
10
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Scyl2em1/Cya mice (Catalog S-KO-20082) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000174252
NCBI RefSeq
NM_198021
Target Region
Exon 3
Size of Effective Region
~2.0 kb
Detailed Document
Overview of Gene Research
SCYL2, a member of the SCY1-like pseudokinase family, is involved in multiple biological processes. In eukaryotes, it regulates secretory protein trafficking, especially in the context of clathrin-mediated vesicle trafficking. This function is crucial for normal cellular activities, and its role in the nervous system is particularly significant as it suppresses excitotoxicity in the developing brain [1,2,3,5].
In mouse models, Scyl2 knockout leads to excess prenatal mortality, and surviving mice show severe neurological dysfunction. Specifically, there is a degeneration of several neuronal populations, most notably CA3 pyramidal neurons of the hippocampus during its functional maturation, which is due to a BAX -dependent apoptotic process caused by excessive excitatory signaling [2]. In humans, bi-allelic loss-of-function variants in SCYL2 are associated with arthrogryposis multiplex congenita-4 (AMC4), characterized by severe arthrogryposis, corpus callosum agenesis, epilepsy, and often early death [1,4].
In conclusion, SCYL2 is essential for the normal functioning of the nervous system, mainly by suppressing excitotoxicity. Studies using Scyl2 knockout mouse models have significantly contributed to understanding its role in neurological disorders like AMC4, highlighting its importance in maintaining normal neural development and function.
References:
1. Malbos, Marlène, Vera, Gabriella, Sheth, Harsh, Benke, Paul J, Philippe, Christophe. 2024. SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond? In Clinical genetics, 106, 757-763. doi:10.1111/cge.14608. https://pubmed.ncbi.nlm.nih.gov/39169672/
2. Gingras, Sebastien, Earls, Laurie R, Howell, Sherie, Zakharenko, Stanislav S, Pelletier, Stephane. . SCYL2 Protects CA3 Pyramidal Neurons from Excitotoxicity during Functional Maturation of the Mouse Hippocampus. In The Journal of neuroscience : the official journal of the Society for Neuroscience, 35, 10510-22. doi:10.1523/JNEUROSCI.2056-14.2015. https://pubmed.ncbi.nlm.nih.gov/26203146/
3. Jung, Ji-Yul, Lee, Dong Wook, Ryu, Stephen Beungtae, Hwang, Inhwan, Schachtman, Daniel P. 2017. SCYL2 Genes Are Involved in Clathrin-Mediated Vesicle Trafficking and Essential for Plant Growth. In Plant physiology, 175, 194-209. doi:10.1104/pp.17.00824. https://pubmed.ncbi.nlm.nih.gov/28751315/
4. Seidahmed, Mohammed Zain, Al-Kindi, Adila, Alsaif, Hessa S, Al-Maawali, Almundher, Alkuraya, Fowzan S. 2020. Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. In Human genetics, 139, 513-519. doi:10.1007/s00439-020-02117-7. https://pubmed.ncbi.nlm.nih.gov/31960134/
5. Pelletier, Stephane. . SCYL pseudokinases in neuronal function and survival. In Neural regeneration research, 11, 42-4. doi:10.4103/1673-5374.175040. https://pubmed.ncbi.nlm.nih.gov/26981075/
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