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C57BL/6JCya-Retreg1em1flox/Cya
Common Name:
Retreg1-flox
Product ID:
S-CKO-12985
Background:
C57BL/6JCya
Product Type
Age
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Sex
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Basic Information
Strain Name
Retreg1-flox
Strain ID
CKOCMP-66270-Retreg1-B6J-VA
Gene Name
Retreg1
Product ID
S-CKO-12985
Gene Alias
1810015C04Rik; Fam134b; Retreg1d
Background
C57BL/6JCya
NCBI ID
66270
Modification
Conditional knockout
Chromosome
15
Phenotype
MGI:1913520
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-Retreg1em1flox/Cya mice (Catalog S-CKO-12985) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000022881
NCBI RefSeq
NM_001034851
Target Region
Exon 4
Size of Effective Region
~0.9 kb
Detailed Document
Click here to download >>
Overview of Gene Research
RETREG1, also known as FAM134B, is a reticulophagy receptor. Reticulophagy is a selective process that removes impaired endoplasmic reticulum (ER) subdomains through autophagy-mediated lysosomal degradation, and RETREG1 plays a crucial role in maintaining ER homeostasis [1,2]. It is also involved in various biological processes and human diseases [2].

Loss-of-function mutations in the RETREG1 gene result in Hereditary Sensory Autonomic Neuropathy Type 2B. Clinical features include pain loss, autonomic disturbances, and upper motor neuron features [3]. In cancer, it acts as a tumor suppressor and its mutations are common in patients with colorectal adenocarcinoma and oesophageal squamous cell carcinoma, associated with the biological aggressiveness of these cancers [2]. Some viruses, like Dengue, Zika, and West Nile virus, can selectively cleave FAM134B, leading to increased production of infection units, while its upregulation inhibits viral replication [2].

In conclusion, RETREG1 is essential for maintaining ER homeostasis through its role in reticulophagy. Studies of RETREG1-related gene knockout models have revealed its significant contributions to understanding the pathogenesis of hereditary sensory autonomic neuropathy and its potential role in cancer and viral-related diseases, providing insights into disease mechanisms and potential therapeutic targets.

References:
1. Zhang, Man, Wang, Zhangshun, Zhao, Qing, Zhang, Zai-Rong, Liu, Yanfen. 2024. USP20 deubiquitinates and stabilizes the reticulophagy receptor RETREG1/FAM134B to drive reticulophagy. In Autophagy, 20, 1780-1797. doi:10.1080/15548627.2024.2347103. https://pubmed.ncbi.nlm.nih.gov/38705724/
2. Islam, Farhadul, Gopalan, Vinod, Lam, Alfred King-Yin. 2018. RETREG1 (FAM134B): A new player in human diseases: 15 years after the discovery in cancer. In Journal of cellular physiology, 233, 4479-4489. doi:10.1002/jcp.26384. https://pubmed.ncbi.nlm.nih.gov/29226326/
3. Çakar, Arman, Bagırova, Gulandam, Durmuş, Hacer, Uyguner, Oya, Parman, Yeşim. 2023. Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy. In Journal of the peripheral nervous system : JPNS, 28, 351-358. doi:10.1111/jns.12581. https://pubmed.ncbi.nlm.nih.gov/37448294/
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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