C57BL/6JCya-Ndufaf5em1flox/Cya
Common Name:
Ndufaf5-flox
Product ID:
S-CKO-18643
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ndufaf5-flox
Strain ID
CKOCMP-69487-Ndufaf5-B6J-VB
Gene Name
Product ID
S-CKO-18643
Gene Alias
2310003L22Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ndufaf5em1flox/Cya mice (Catalog S-CKO-18643) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000044825
NCBI RefSeq
NM_027093
Target Region
Exon 6~7
Size of Effective Region
~2.9 kb
Detailed Document
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 hydroxylates Arg-73 in the NDUFS7 subunit of human complex I at an early stage in the assembly pathway of complex I [2,4]. Complex I is crucial for mitochondrial respiratory chain function, and thus Ndufaf5 is of great biological importance in energy metabolism processes. The Dictyostelium model has been used to study Ndufaf5, where its disruption leads to CI deficiency, defects in growth and development, and an increase in autophagy [2].
Mutations in Ndufaf5 are linked to Leigh syndrome with phenotypic heterogeneity. Onset age shows a bimodal distribution. The early-onset group (age < 3 years) presents with psychomotor delay, seizure, respiratory failure, and hyponatremia, while the late-onset group (age ≥ 5 years) initially has normal development but then experiences slowly progressive dystonia [1]. Bilateral basal ganglia necrosis is a common radiological feature, with more brainstem and spinal cord involvement in early-onset patients. 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].
In conclusion, Ndufaf5 is essential for the assembly of mitochondrial complex I, playing a crucial role in energy-related biological processes. Studies using models like Dictyostelium have revealed its function in growth, development, and autophagy. The discovery of its association with Leigh syndrome and prenatal abnormalities through genetic studies has enhanced our understanding of related disease mechanisms, providing insights for diagnosis and potential treatment 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/
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