C57BL/6JCya-Naxdem1/Cya
Common Name:
Naxd-KO
Product ID:
S-KO-19223
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Naxd-KO
Strain ID
KOCMP-69225-Naxd-B6J-VB
Gene Name
Product ID
S-KO-19223
Gene Alias
0710008K08Rik; 2810407E01Rik; Carkd
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
8
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Naxdem1/Cya mice (Catalog S-KO-19223) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000033901
NCBI RefSeq
NM_026995
Target Region
Exon 2
Size of Effective Region
~2.0 kb
Detailed Document
Overview of Gene Research
Naxd, also known as NAD(P)HX dehydratase, is a highly conserved enzyme essential for the intracellular repair of damaged nicotinamide nucleotide cofactors [NAD(P)HX], which are formed when the central cofactors NAD(P)H are damaged by hydration [2,6]. This repair process is crucial as the accumulation of damaged metabolites can have devastating effects on tissues such as the brain and heart. The gene has two isoforms, with exon 1 containing a mitochondrial propeptide and an alternative start codon in exon 2 initiating a cytosolic isoform [2].
Pathogenic variants in Naxd are associated with a rare metabolite repair disorder. In affected individuals, febrile illnesses can trigger progressive encephalopathy, often accompanied by skin eruptions, leading to high mortality rates [4]. Patients with variants affecting both cytosolic and mitochondrial isoforms present with neurological defects, seizures, and skin lesions, while those with variants only affecting the mitochondrial isoform have myopathy, moderate neuropathy, and cardiac issues without the characteristic skin lesions, seizures, or neurological degeneration [2]. Naxd-deficient patients also show elevated serum or cerebrospinal fluid lactate levels and brain neuroimaging abnormalities [3]. Niacin-based therapies have shown promise in improving outcomes and normalizing metabolic abnormalities in Naxd-deficient patients [1]. A case of an adult succumbing to Naxd-related neurometabolic crisis at 32 years of age, likely triggered by mild head trauma, was reported, extending the understanding of Naxd deficiency [5].
In conclusion, Naxd plays a vital role in the repair of damaged NAD(P)HX, and its deficiency leads to severe neurometabolic disorders. Understanding the function of Naxd through the study of its deficiency in patients helps in identifying early diagnostic markers and developing effective treatment strategies, such as niacin-based therapies, for these life-threatening conditions [1,2,3,4,5,6].
References:
1. Manor, Joshua, Calame, Daniel G, Gijavanekar, Charul, Scaglia, Fernando, Elsea, Sarah H. . Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. In Brain : a journal of neurology, 145, e36-e40. doi:10.1093/brain/awac065. https://pubmed.ncbi.nlm.nih.gov/35231119/
2. Van Bergen, Nicole J, Walvekar, Adhish S, Patraskaki, Myrto, Linster, Carole L, Christodoulou, John. 2022. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency. In Journal of inherited metabolic disease, 45, 1028-1038. doi:10.1002/jimd.12541. https://pubmed.ncbi.nlm.nih.gov/35866541/
3. Majethia, Purvi, Mishra, Shivani, Rao, Lakshmi Priya, Rao, Raghavendra, Shukla, Anju. 2021. NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature. In European journal of medical genetics, 64, 104266. doi:10.1016/j.ejmg.2021.104266. https://pubmed.ncbi.nlm.nih.gov/34161859/
4. Abdulkarim, Boraan, Mittal, Setu, Vahidnezhad, Hassan, Camilleri, Michael J, Mohandesi, Nessa Aghazadeh. 2025. Cutaneous Manifestations of NAXD or NAXE Deficiency: A Literature Review for the Dermatologist. In Pediatric dermatology, 42, 233-239. doi:10.1111/pde.15868. https://pubmed.ncbi.nlm.nih.gov/39887790/
5. Van Bergen, Nicole J, Gunanayagam, Karen, Bournazos, Adam M, Cooper, Sandra T, Christodoulou, John. 2023. Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma. In International journal of molecular sciences, 24, . doi:10.3390/ijms24043582. https://pubmed.ncbi.nlm.nih.gov/36834994/
6. Van Bergen, Nicole J, Guo, Yiran, Rankin, Julia, Ellard, Sian, Hakonarson, Hakon. . NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. In Brain : a journal of neurology, 142, 50-58. doi:10.1093/brain/awy310. https://pubmed.ncbi.nlm.nih.gov/30576410/
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