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C57BL/6JCya-Exosc9em1/Cya
Common Name:
Exosc9-KO
Product ID:
S-KO-18438
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Exosc9-KO
Strain ID
KOCMP-50911-Exosc9-B6J-VB
Gene Name
Exosc9
Product ID
S-KO-18438
Gene Alias
PM/Scl-75; Pmscl1; RRP45; p5; p6
Background
C57BL/6JCya
NCBI ID
50911
Modification
Conventional knockout
Chromosome
3
Phenotype
MGI:1355319
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-Exosc9em1/Cya mice (Catalog S-KO-18438) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000029269
NCBI RefSeq
NM_019393
Target Region
Exon 3~5
Size of Effective Region
~1.9 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Exosc9, also known as exosome complex component RRP45, is a component of the RNA exosome complex. The RNA exosome is crucial for the correct processing and degradation of numerous RNAs, thus playing a vital role in regulating gene expression and various biological processes [5,6,7].

In cancer cells, EXOSC9 depletion attenuates growth and survival under stress conditions, decreases P-body formation (messenger ribonucleoprotein particles required for stress adaptation), and reduces tumorigenicity in an RNA-binding motif-dependent manner. Database analyses also show that higher EXOSC9 activity is correlated with poorer prognosis in some cancer patients [1]. In endocrine therapy-resistant hormone receptor-positive breast cancer cells, elevated Exosc9 drives cell growth by degrading lncRNA TERRA, which impacts telomeric integrity and DNA damage response, and may serve as a biomarker for predicting response to PARP inhibitors [2].

In addition, mutations in EXOSC9 are associated with pontocerebellar hypoplasia type 1D, a neurodegenerative disorder characterized by cerebellar atrophy, spinal motor neuropathy, and other neurological features. In zebrafish models, knockdown or mutagenesis of exosc9 recapitulates aspects of the human phenotype, with defects in cerebellar and motor neuron development [3,4,6]. RNA sequencing in human cells with EXOSC9 down-regulation shows changes in genes involved in neuronal development and p53-dependent signalling, providing insights into the pathogenesis of exosome-related disorders [7].

In conclusion, Exosc9 is essential for RNA processing and degradation through its role in the RNA exosome complex. Its functions have significant implications in cancer, especially in stress adaptation and tumorigenicity, as well as in neurodegenerative diseases such as pontocerebellar hypoplasia type 1D. Studies using animal models like zebrafish have been valuable in understanding the role of Exosc9 in these disease conditions.

References:
1. Yoshino, Seiko, Matsui, Yusuke, Fukui, Yuya, Inoue, Jun-Ichiro, Sakamoto, Takeharu. 2020. EXOSC9 depletion attenuates P-body formation, stress resistance, and tumorigenicity of cancer cells. In Scientific reports, 10, 9275. doi:10.1038/s41598-020-66455-2. https://pubmed.ncbi.nlm.nih.gov/32518284/
2. Quttina, Maram, Waiters, Kacie D, Khan, Ashfia Fatima, Merchant, Fatima A, Bawa-Khalfe, Tasneem. 2023. Exosc9 Initiates SUMO-Dependent lncRNA TERRA Degradation to Impact Telomeric Integrity in Endocrine Therapy Insensitive Hormone Receptor-Positive Breast Cancer. In Cells, 12, . doi:10.3390/cells12202495. https://pubmed.ncbi.nlm.nih.gov/37887339/
3. Bizzari, Sami, Hamzeh, Abdul Rezzak, Mohamed, Madiha, Al-Ali, Mahmoud Taleb, Bastaki, Fatma. 2019. Expanded PCH1D phenotype linked to EXOSC9 mutation. In European journal of medical genetics, 63, 103622. doi:10.1016/j.ejmg.2019.01.012. https://pubmed.ncbi.nlm.nih.gov/30690203/
4. Sakamoto, Masamune, Iwama, Kazuhiro, Sekiguchi, Futoshi, Miyake, Noriko, Matsumoto, Naomichi. 2020. Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. In Journal of human genetics, 66, 401-407. doi:10.1038/s10038-020-00853-2. https://pubmed.ncbi.nlm.nih.gov/33040083/
5. Fasken, Milo B, Morton, Derrick J, Kuiper, Emily G, Leung, Sara W, Corbett, Anita H. . The RNA Exosome and Human Disease. In Methods in molecular biology (Clifton, N.J.), 2062, 3-33. doi:10.1007/978-1-4939-9822-7_1. https://pubmed.ncbi.nlm.nih.gov/31768969/
6. Burns, David T, Donkervoort, Sandra, Müller, Juliane S, Horvath, Rita, Bönnemann, Carsten G. . Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. In American journal of human genetics, 102, 858-873. doi:10.1016/j.ajhg.2018.03.011. https://pubmed.ncbi.nlm.nih.gov/29727687/
7. Müller, Juliane S, Burns, David T, Griffin, Helen, Schneider, Claudia, Horvath, Rita. 2020. RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels. In Life science alliance, 3, . doi:10.26508/lsa.202000678. https://pubmed.ncbi.nlm.nih.gov/32527837/
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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