Logo
Homepage
Explore Our Models
My Cart
Contact
Subscribe
Models
Genetically Engineered Animals
Knockout Mice
Knockout Rats
Knockin Mice
Knockin Rats
Transgenic Mice
Transgenic Rats
Model Generation Techniques
Turboknockout<sup>®</sup> Gene Targeting
ES Cell Gene Targeting
Targeted Gene Editing
Regular Transgenic
PiggyBac Transgenesis
BAC Transgenic
Research Models
HUGO-GT™ Humanized Mice
Cre Mouse Lines
Humanized Target Gene Models
Metabolic Disease Models
Ophthalmic Disease Models
Neurological Disease Models
Autoimmune Disease Models
Immunodeficient Mouse Models
Humanized Immune System Mouse Models
Oncology & Immuno-oncology Models
Covid-19 Mouse Models
MouseAtlas Model Library
Knockout Cell Line Product Catalog
Tumor Cell Line Product Catalog
AAV Standard Product Catalog
Animal Supporting Services
Breeding Services
Cryopreservation & Recovery
Phenotyping Services
BAC Modification
Custom Cell Line Models
Induced Pluripotent Stem Cells (iPSCs)
Knockout Cell Lines
Knockin Cell Lines
Point Mutation Cell Lines
Overexpression Cell Lines
Virus Packaging
Adeno-associated Virus (AAV) Packaging
Lentivirus Packaging
Adenovirus Packaging
CRO Services
By Therapeutic Area
Oncology
Ophthalmology
Neuroscience
Metabolic & Cardiovascular Diseases
Autoimmune & Inflammatory
By Drug Type
AI-Powered AAV Discovery
Gene Therapy
Oligonucleotide Therapy
Antibody Therapy
Cell Immunotherapy
Resources
Promotion
Events & Webinars
Newsroom
Blogs & Insights
Resource Vault
Reference Databases
Peer-Reviewed Citations
Rare Disease Data Center
AbSeek
Cell iGeneEditor™ System
OriCell
Quality
Facility Overview
Animal Health & Welfare
Health Reports
About Us
Corporate Overview
Our Partners
Careers
Contact Us
Login
Request a Product Quote
Select products from our catalogs and submit your request. Our team will get back to you with detailed information.
Full Name
Email
Phone Number
Organization
Job Role
Country
Catalog Type
Product Name
Additional Comments
Cyagen values your privacy. We’d like to keep you informed about our latest offerings and insights. Your preferences:
You may unsubscribe from these communications at any time. See our Privacy Policy for details on opting out and data protection.
By clicking the button below, you consent to allow Cyagen to store and process the personal information submitted in this form to provide you the content requested.
C57BL/6JCya-Sil1em1/Cya
Common Name:
Sil1-KO
Product ID:
S-KO-15355
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Sil1-KO
Strain ID
KOCMP-81500-Sil1-B6J-VA
Gene Name
Sil1
Product ID
S-KO-15355
Gene Alias
1810057E01Rik; wz
Background
C57BL/6JCya
NCBI ID
81500
Modification
Conventional knockout
Chromosome
18
Phenotype
MGI:1932040
Document
Click here to download >>
Application
--
More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Sil1em1/Cya mice (Catalog S-KO-15355) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000025215
NCBI RefSeq
NM_030749.2
Target Region
Exon 6~7
Size of Effective Region
~8.5 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Sil1 is an endoplasmic reticulum (ER)-resident protein and a nucleotide exchange factor for the molecular chaperone protein Bip [1,4,6,7]. It plays a crucial role in the ER protein-folding process. Bip, an ER HSP70 chaperone, interacts with unfolded client proteins in a nucleotide-dependent manner, and Sil1 tightly regulates this process by facilitating the conversion from the ADP-bound to the ATP-bound state of Bip, closing the chaperone folding cycle [1,4,7]. This function is essential for ensuring proper protein maturation in the ER; otherwise, misfolded proteins may accumulate, triggering the unfolded protein response (UPR) [3]. Genetic models, such as mouse models, have been valuable in studying Sil1's functions.

Loss-of-function mutations in Sil1 are the leading cause of Marinesco-Sjögren syndrome (MSS), an autosomal recessive multisystem disorder [1]. In Sil1-deficient fibroblasts from MSS patients, transcriptomic analysis revealed 664 differentially expressed transcripts, with issues in membrane trafficking, and an impact on the extracellular space/extracellular matrix (ECM) and cell adhesion machinery. Functional assays showed reduced ECM remodelling capacity, motility, and slower spreading during adhesion in these fibroblasts, and TEM analysis of mouse tendons indicated a disorganization of collagen fibres, suggesting that aberrant ECM is a key pathological feature of MSS [3]. In SIL1-deficient zebrafish embryos and mice, morphological changes were detected in the peripheral nervous system (PNS) and neuromuscular junctions (NMJs), suggesting that impaired neuromuscular transmission might be part of MSS pathophysiology [5]. In mice with Sil1 deficiency, the expression of Reelin receptors was diminished, impairing the Reelin signalling pathway, inhibiting the developmental expression of GluN2A, and impairing spatial learning, indicating a role for Sil1 in central nervous system development [2]. In a cortical neuron model with SIL1 protein deficiency, proteomic analysis identified that loss of SIL1 affects actin dynamics, leading to abnormal neural migration [6].

In conclusion, Sil1 is essential for maintaining ER homeostasis and normal physiology through its role in the protein-folding process in the ER. Studies using gene-knockout (KO) mouse models and other loss-of-function experiments have revealed its significance in diseases like MSS, as well as its role in processes such as neural development, ECM regulation, and neuromuscular function. Understanding Sil1's functions provides potential avenues for developing treatments for MSS and other related conditions [1,2,3,5,6].

References:

1. Ichhaporia, Viraj P, Hendershot, Linda M. 2021. Role of the HSP70 Co-Chaperone SIL1 in Health and Disease. In International journal of molecular sciences, 22, . doi:10.3390/ijms22041564. https://pubmed.ncbi.nlm.nih.gov/33557244/

2. Xu, Shilian, Zhu, Jia, Mi, Kai, Shen, Yan, Zhang, Xiaomin. 2019. Functional Role of SIL1 in Neurodevelopment and Learning. In Neural plasticity, 2019, 9653024. doi:10.1155/2019/9653024. https://pubmed.ncbi.nlm.nih.gov/31531014/

3. Amodei, Laura, Ruggieri, Anna Giulia, Potenza, Francesca, De Laurenzi, Vincenzo, Sallese, Michele. 2024. Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome. In Journal of translational medicine, 22, 787. doi:10.1186/s12967-024-05582-0. https://pubmed.ncbi.nlm.nih.gov/39180052/

4. Bracher, Andreas, Verghese, Jacob. . Nucleotide Exchange Factors for Hsp70 Molecular Chaperones: GrpE, Hsp110/Grp170, HspBP1/Sil1, and BAG Domain Proteins. In Sub-cellular biochemistry, 101, 1-39. doi:10.1007/978-3-031-14740-1_1. https://pubmed.ncbi.nlm.nih.gov/36520302/

5. Phan, Vietxuan, Cox, Dan, Cipriani, Silvia, Weis, Joachim, Roos, Andreas. 2018. SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. In Neurobiology of disease, 124, 218-229. doi:10.1016/j.nbd.2018.11.019. https://pubmed.ncbi.nlm.nih.gov/30468864/

6. Xu, Yuanyuan, Sun, Hongji, Chen, Junyang, Zhong, Zhaoming, Zhang, Xiaomin. 2024. Loss of SIL1 Affects Actin Dynamics and Leads to Abnormal Neural Migration. In Molecular neurobiology, 62, 335-350. doi:10.1007/s12035-024-04272-8. https://pubmed.ncbi.nlm.nih.gov/38850350/

7. Bracher, Andreas, Verghese, Jacob. . GrpE, Hsp110/Grp170, HspBP1/Sil1 and BAG domain proteins: nucleotide exchange factors for Hsp70 molecular chaperones. In Sub-cellular biochemistry, 78, 1-33. doi:10.1007/978-3-319-11731-7_1. https://pubmed.ncbi.nlm.nih.gov/25487014/

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
Model Library
Model Library
Resources
Resources
Animal Quality
Animal Quality
Get Support
Get Support
Address:
2255 Martin Avenue, Suite E Santa Clara, CA 95050-2709, US
Tel:
800-921-8930 (8-6pm PST)
+1408-963-0306 (lnt’l)
Fax:
408-969-0338
Email:
animal-service@cyagen.com
service@cyagen.us
CRO Services
OncologyOphthalmologyNeuroscienceMetabolic & CardiovascularAutoimmune & InflammatoryGene TherapyAntibody Therapy
About Us
Corporate OverviewOur PartnersCareersContact Us
Social Media
Disclaimer: Pricing and availability of our products and services vary by region. Listed prices are applicable to the specific countries. Please contact us for more information.
Copyright © 2025 Cyagen. All rights reserved.
Privacy Policy
Site Map
Stay Updated with the Latest from Cyagen
Get the latest news on our research models, CRO services, scientific resources, and special offers—tailored to your research needs and delivered straight to your inbox.
Full Name
Email
Organization
Country
Areas of Interest