C57BL/6JCya-Nme5em1/Cya
Common Name:
Nme5-KO
Product ID:
S-KO-19442
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nme5-KO
Strain ID
KOCMP-75533-Nme5-B6J-VC
Gene Name
Product ID
S-KO-19442
Gene Alias
1700019D05Rik; Nm23-M5
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
18
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nme5em1/Cya mice (Catalog S-KO-19442) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000079287
NCBI RefSeq
NM_080637
Target Region
Exon 3
Size of Effective Region
~1.2 kb
Detailed Document
Overview of Gene Research
NME5, a member of the NME/NM23 family of nucleoside diphosphate kinases (NDPK), encodes a protein associated with ciliary function. It may also play roles in DNA proofreading and repair due to its 3'-5' exonuclease activity, and is involved in the regulation of gemcitabine resistance in pancreatic cancer cells through the NF-κB pathway [2,4,5].
In Alaskan Malamutes, a frameshift variant (c.43delA) in NME5 causes primary ciliary dyskinesia (PCD), with affected dogs showing chronic respiratory infections and fertility problems. Nme5 -/- knockout mice exhibit doming of the skull, hydrocephalus, and sperm flagellar defects. In humans, a homozygous nonsense variant (c.572G>A; p.Trp191*) in NME5 was identified in a PCD patient with situs solitus, and morpholino knockdown of nme5 in zebrafish embryos led to motile cilia defects [1,3].
In conclusion, NME5 is crucial for ciliary function, and its disruption can lead to PCD in both animals and humans. Gene knockout models, such as Nme5 -/- knockout mice, have been instrumental in revealing its role in PCD-associated phenotypes. Understanding NME5's function may provide insights into the pathogenesis of PCD and potentially other related diseases [1,3].
References：
1. Anderegg, Linda, Im Hof Gut, Michelle, Hetzel, Udo, Jagannathan, Vidhya, Leeb, Tosso. 2019. NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. In PLoS genetics, 15, e1008378. doi:10.1371/journal.pgen.1008378. https://pubmed.ncbi.nlm.nih.gov/31479451/
2. Perina, Dragutin, Korolija, Marina, Mikoč, Andreja, Herak Bosnar, Maja, Ćetković, Helena. 2019. Characterization of Nme5-Like Gene/Protein from the Red Alga Chondrus Crispus. In Marine drugs, 18, . doi:10.3390/md18010013. https://pubmed.ncbi.nlm.nih.gov/31877804/
3. Cho, Eun Hye, Huh, Hee Jae, Jeong, Inyoung, Park, Hae-Chul, Ki, Chang-Seok. 2020. A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects. In Clinical genetics, 98, 64-68. doi:10.1111/cge.13742. https://pubmed.ncbi.nlm.nih.gov/32185794/
4. Li, Fu, Hu, Gang, Jiang, Zhenzhou, Qin, Xiaoran, Zhang, Luyong. 2012. Identification of NME5 as a contributor to innate resistance to gemcitabine in pancreatic cancer cells. In The FEBS journal, 279, 1261-73. doi:10.1111/j.1742-4658.2012.08521.x. https://pubmed.ncbi.nlm.nih.gov/22325559/
5. Puts, Gemma S, Leonard, M Kathryn, Pamidimukkala, Nidhi V, Snyder, Devin E, Kaetzel, David M. 2017. Nuclear functions of NME proteins. In Laboratory investigation; a journal of technical methods and pathology, 98, 211-218. doi:10.1038/labinvest.2017.109. https://pubmed.ncbi.nlm.nih.gov/29058704/
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