C57BL/6JCya-Cep85lem1/Cya
Common Name:
Cep85l-KO
Product ID:
S-KO-00015
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Cep85l-KO
Strain ID
KOCMP-100038725-Cep85l-B6J-VA
Gene Name
Product ID
S-KO-00015
Gene Alias
1700003O08Rik; Gm9766
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-Cep85lem1/Cya mice (Catalog S-KO-00015) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000220443
NCBI RefSeq
NM_001204983
Target Region
Exon 2~3
Size of Effective Region
~10.5 kb
Detailed Document
Overview of Gene Research
CEP85L, known as centrosomal protein 85 kDa-like, is a centrosome protein localizing to the pericentriolar material. It plays a key role in neuronal migration, with its functions potentially linked to pathways involving proteins like CDK5, LIS1, NDE1, KIF2A, and DYNC1H1. Its proper function is crucial for normal brain development [4,7].
Knockdown of Cep85l in mice causes a neuronal migration defect, suggesting its essential role in this process. In humans, pathogenic variants in CEP85L are associated with lissencephaly type 10, characterized by posterior-predominant abnormalities in gyration, seizures, developmental delays, or intellectual disability [1,4,8,10]. Additionally, circ-CEP85L, a circular RNA, suppresses the proliferation and invasion of gastric cancer cells by regulating NFKBIA expression via miR-942-5p [2]. CEP85L-ROS1 fusion gene has also been found as a rare, acquired resistance mutation to Osimertinib in non-small cell lung cancer patients [3]. There is also an association between CEP85L (rs11756438) and schizophrenia susceptibility in the Iranian population, and the gene has been identified as a novel locus in aortic stenosis through a genome-wide association study [5,6]. A CEP85L-PDGFRB fusion has been reported in a patient with an imatinib-responsive myeloproliferative neoplasm with eosinophilia [9].
In conclusion, CEP85L is vital for neuronal migration and has implications in multiple disease areas including neurological disorders such as lissencephaly and schizophrenia, as well as cancers like gastric and lung cancer, and a myeloproliferative neoplasm. Studies on Cep85l knockdown mouse models have been instrumental in revealing its role in neuronal migration, providing insights into the underlying mechanisms of related diseases.
References:
1. Leduc-Pessah, Heather, White-Brown, Alexandre, Miller, Elka, McMillan, Hugh J, Boycott, Kym M. 2023. Further characterization of CEP85L-associated lissencephaly type 10: Report of a three-generation family and review of the literature. In American journal of medical genetics. Part A, 191, 2878-2883. doi:10.1002/ajmg.a.63380. https://pubmed.ncbi.nlm.nih.gov/37621218/
2. Lu, Jun, Wang, Yao-Hui, Huang, Xiao-Yan, Zheng, Chao-Hui, Li, Ping. 2020. circ-CEP85L suppresses the proliferation and invasion of gastric cancer by regulating NFKBIA expression via miR-942-5p. In Journal of cellular physiology, 235, 6287-6299. doi:10.1002/jcp.29556. https://pubmed.ncbi.nlm.nih.gov/32026471/
3. Kian, Waleed, Krayim, Bilal, Alsana, Hadel, Peled, Nir, Roisman, Laila C. 2023. Overcoming CEP85L-ROS1, MKRN1-BRAF and MET amplification as rare, acquired resistance mutations to Osimertinib. In Frontiers in oncology, 13, 1124949. doi:10.3389/fonc.2023.1124949. https://pubmed.ncbi.nlm.nih.gov/36923435/
4. Tsai, Meng-Han, Muir, Alison M, Wang, Won-Jing, Tsai, Jin-Wu, Mefford, Heather C. 2020. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. In Neuron, 106, 237-245.e8. doi:10.1016/j.neuron.2020.01.027. https://pubmed.ncbi.nlm.nih.gov/32097630/
5. Poursaei, Elham, Daneshmandpour, Yousef, Aghaei Moghadam, Ehsan, Kazeminasab, Somayeh, Emamalizadeh, Babak. . LRP8 (rs5177) and CEP85L (rs11756438) are contributed to schizophrenia susceptibility in Iranian population. In Psychiatric genetics, 30, 162-165. doi:10.1097/YPG.0000000000000266. https://pubmed.ncbi.nlm.nih.gov/33079740/
6. Small, Aeron M, Peloso, Gina M, Linefsky, Jason, Natarajan, Pradeep, O'Donnell, Christopher J. 2023. Multiancestry Genome-Wide Association Study of Aortic Stenosis Identifies Multiple Novel Loci in the Million Veteran Program. In Circulation, 147, 942-955. doi:10.1161/CIRCULATIONAHA.122.061451. https://pubmed.ncbi.nlm.nih.gov/36802703/
7. Kodani, Andrew, Kenny, Connor, Lai, Abbe, Yuskaitis, Christopher J, Walsh, Christopher A. 2020. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. In Neuron, 106, 246-255.e6. doi:10.1016/j.neuron.2020.01.030. https://pubmed.ncbi.nlm.nih.gov/32097629/
8. Moloney, Patrick B, Benson, Katherine A, Phelan, Ethna, O'Regan, Mary, Redmond, Janice. 2022. Familial posterior predominant subcortical band heterotopia caused by a CEP85L missense mutation. In Seizure, 103, 58-60. doi:10.1016/j.seizure.2022.10.018. https://pubmed.ncbi.nlm.nih.gov/36306705/
9. Winkelmann, Nils, Hidalgo-Curtis, Claire, Waghorn, Katherine, Ali, Sahra, Cross, Nicholas C P. 2013. Recurrent CEP85L-PDGFRB fusion in patient with t(5;6) and imatinib-responsive myeloproliferative neoplasm with eosinophilia. In Leukemia & lymphoma, 54, 1527-31. doi:10.3109/10428194.2012.753544. https://pubmed.ncbi.nlm.nih.gov/23186533/
10. Furukawa, Shogo, Kato, Mitsuhiro, Ishiyama, Akihiko, Nakashima, Mitsuko, Saitsu, Hirotomo. 2024. Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield. In Journal of human genetics, 69, 629-637. doi:10.1038/s10038-024-01283-0. https://pubmed.ncbi.nlm.nih.gov/39123069/
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