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C57BL/6JCya-Ndufaf5em1/Cya
Common Name:
Ndufaf5-KO
Product ID:
S-KO-18140
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ndufaf5-KO
Strain ID
KOCMP-69487-Ndufaf5-B6J-VB
Gene Name
Ndufaf5
Product ID
S-KO-18140
Gene Alias
2310003L22Rik
Background
C57BL/6JCya
NCBI ID
69487
Modification
Conventional knockout
Chromosome
2
Phenotype
MGI:1916737
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-Ndufaf5em1/Cya mice (Catalog S-KO-18140) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000044825
NCBI RefSeq
NM_027093
Target Region
Exon 6~7
Size of Effective Region
~1.2 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Ndufaf5, also known as C20orf7, is a mitochondrial complex I (CI) assembly factor. It belongs to the family of seven-β-strand S-adenosylmethionine-dependent methyltransferases and catalyzes the introduction of a hydroxyl group into Arg-73 in the NDUFS7 subunit of human complex I at an early stage in the assembly of complex I [2,4]. Mitochondrial complex I is crucial for the mitochondrial respiratory chain, thus Ndufaf5 is of great importance in maintaining normal mitochondrial function.

Mutations in Ndufaf5 have been linked to Leigh syndrome, a severe neurological disorder. In a study of patients with biallelic Ndufaf5 mutations, the onset age had a bimodal distribution. The early-onset group presented with psychomotor delay, seizure, respiratory failure, and hyponatremia, while the late-onset group had normal development initially but then showed slowly progressive dystonia [1]. Additionally, prenatal manifestations such as brain cysts, corpus callosal malformations, non-immune hydrops fetalis, and growth restriction have been associated with biallelic Ndufaf5 variants [3]. A case report also showed that compound heterozygous mutations in Ndufaf5 could lead to early infant death due to Leigh syndrome [5]. In the Dictyostelium model, disruption of Ndufaf5 leads to CI deficiency, growth and development defects, and an increase in autophagy, suggesting novel AMPK-independent pathways responsible for Ndufaf5 cytopathology [2].

In conclusion, Ndufaf5 is essential for the assembly of mitochondrial complex I. Studies, including those using genetic models like the Dictyostelium model, have revealed its role in normal development and disease, particularly in Leigh syndrome. Understanding Ndufaf5 provides insights into the mechanisms of mitochondrial respiratory chain-related disorders and potential therapeutic strategies.

References:
1. Chen, Pin-Shiuan, Lee, Ni-Chung, Sung, Chieh-Ju, Hwuh, Wuh-Liang, Lin, Chin-Hsien. 2023. Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5. In Movement disorders : official journal of the Movement Disorder Society, 38, 2217-2229. doi:10.1002/mds.29604. https://pubmed.ncbi.nlm.nih.gov/37752895/
2. Carilla-Latorre, Sergio, Annesley, Sarah J, Muñoz-Braceras, Sandra, Fisher, Paul R, Escalante, Ricardo. 2013. Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development. In Molecular biology of the cell, 24, 1519-28. doi:10.1091/mbc.E12-11-0796. https://pubmed.ncbi.nlm.nih.gov/23536703/
3. Brabbing-Goldstein, D, Kozlova, D, Bazak, L, Birnbaum, R, Yaron, Y. . Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype. In Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology, 63, 392-398. doi:10.1002/uog.27482. https://pubmed.ncbi.nlm.nih.gov/37718619/
4. Rhein, Virginie F, Carroll, Joe, Ding, Shujing, Fearnley, Ian M, Walker, John E. 2016. NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I. In The Journal of biological chemistry, 291, 14851-60. doi:10.1074/jbc.M116.734970. https://pubmed.ncbi.nlm.nih.gov/27226634/
5. Wen, Yan, Lu, Guoyan, Qiao, Lina, Li, Yifei. 2021. A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report. In Molecular genetics & genomic medicine, 10, e1852. doi:10.1002/mgg3.1852. https://pubmed.ncbi.nlm.nih.gov/34964562/
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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