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C57BL/6JCya-Nek1em1/Cya
Common Name:
Nek1-KO
Product ID:
S-KO-18290
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nek1-KO
Strain ID
KOCMP-18004-Nek1-B6J-VA
Gene Name
Nek1
Product ID
S-KO-18290
Gene Alias
D8Ertd790e; kat
Background
C57BL/6JCya
NCBI ID
18004
Modification
Conventional knockout
Chromosome
8
Phenotype
MGI:97303
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-Nek1em1/Cya mice (Catalog S-KO-18290) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000211672
NCBI RefSeq
NM_001293637
Target Region
Exon 4
Size of Effective Region
~1.4 kb
Detailed Document
Click here to download >>
Overview of Gene Research
NEK1, or NIMA-related kinase 1, encodes a serine/threonine kinase. It is involved in multiple cell pathways such as retromer-mediated endosomal trafficking, DNA damage response, and ciliogenesis [2,4]. It also plays a role in processes like glucose metabolism, regulation of RIPK1 activation, and microtubule cytoskeleton and nucleocytoplasmic transport [2,3].

Loss-of-function mutations in NEK1 are associated with human developmental disorders and amyotrophic lateral sclerosis (ALS). In ALS patients, the frequency of NEK1 mutations is 3.1% (including 0.9% loss-of-function (LoF) and 2.3% missense mutations), and these mutations significantly increase the risk of ALS [1]. In a Drosophila model, NEK1 is essential for motor control and survival, and in induced pluripotent stem cell (iPSC)-motor neuron (MN) models, NEK1 deficiency disrupts microtubule homeostasis and nuclear import, which can be restored by stabilizing microtubules [3]. In mice, NEK1 deficiency disrupts blood-brain barrier (BBB) integrity, while genetic inactivation of RIPK1 or metabolic rescue with a ketogenic diet can prevent postnatal lethality and BBB damage [2]. In an ALS patient-derived iPSC-MN model with both C9ORF72 hexanucleotide G4C2 repeat expansion and a NEK1 LoF mutation, NEK1 haploinsufficiency increased pathological C9ORF72 RNA foci in iPSCs and DNA damage levels in iPSC-MNs [4].

In conclusion, NEK1 is a crucial kinase involved in multiple cellular processes. Studies using various genetic models, especially loss-of-function models, have revealed its significant role in diseases like ALS, providing insights into disease mechanisms and potential therapeutic targets for these conditions.

References:
1. Yao, Luqing, He, Xiaoyan, Cui, Baolong, Zhao, Fang, Zhou, Chang. 2021. NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis. In Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 42, 1277-1285. doi:10.1007/s10072-020-05037-6. https://pubmed.ncbi.nlm.nih.gov/33462636/
2. Wang, Huibing, Qi, Weiwei, Zou, Chengyu, Zhu, Zheng-Jiang, Yuan, Junying. 2021. NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation. In Nature communications, 12, 4826. doi:10.1038/s41467-021-25157-7. https://pubmed.ncbi.nlm.nih.gov/34376696/
3. Mann, Jacob R, McKenna, Elizabeth D, Mawrie, Darilang, Pandey, Udai B, Kiskinis, Evangelos. 2023. Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import. In Science advances, 9, eadi5548. doi:10.1126/sciadv.adi5548. https://pubmed.ncbi.nlm.nih.gov/37585529/
4. Santangelo, Serena, Invernizzi, Sabrina, Sorce, Marta Nice, Bossolasco, Patrizia, Ratti, Antonia. . NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons. In Human molecular genetics, 33, 1900-1907. doi:10.1093/hmg/ddae121. https://pubmed.ncbi.nlm.nih.gov/39222049/
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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