C57BL/6JCya-Ccdc51em1flox/Cya
Common Name:
Ccdc51-flox
Product ID:
S-CKO-13225
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ccdc51-flox
Strain ID
CKOCMP-66658-Ccdc51-B6J-VA
Gene Name
Product ID
S-CKO-13225
Gene Alias
5730568A12Rik; Mitok
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ccdc51em1flox/Cya mice (Catalog S-CKO-13225) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000026735
NCBI RefSeq
NM_025689
Target Region
Exon 2~4
Size of Effective Region
~3.2 kb
Detailed Document
Overview of Gene Research
Ccdc51, also known as MITOK, encodes a mitochondrial coiled-coil domain-containing 51 protein. It is crucial for mitochondrial function, playing a role in mitochondrial fission dynamics, and is associated with maintaining normal mitochondrial morphology and organelle homeostasis. It may also be involved in pathways related to endocytic trafficking as it was detected in early endosomes in an EGF-dependent manner [4].
Mutated Ccdc51 has been identified as a candidate gene defect for autosomal recessive rod-cone dystrophy. A homozygous frameshift variant in Ccdc51 was found in a patient, and MITOK ablation causes mitochondrial dysfunction. Ccdc51 localizes in the retina, specifically in the inner segments of photoreceptors, which are rich in mitochondria [1]. Additionally, knockdown of Ccdc51 in human cells leads to reduced rates of mitochondrial fission, and its overexpression promotes association with Drp1 and induces mitochondrial fragmentation, suggesting it is a positive effector of mitochondrial fission. It can also partially rescue yeast Δmdm33 cells, indicating functional analogy with yeast Mdm33, a protein previously implicated in mitochondrial fission-related processes [2,3].
In conclusion, Ccdc51 is essential for mitochondrial function, especially in mitochondrial fission. Its dysfunction is associated with non-syndromic inherited retinal disorders, highlighting its significance in understanding the pathogenesis of such diseases. Studies on Ccdc51, including those using gene-knockdown models, contribute to uncovering the role of mitochondrial proteins in maintaining normal physiological functions and the development of related diseases.
References:
1. Zeitz, Christina, Méjécase, Cécile, Michiels, Christelle, Sahel, José-Alain, Audo, Isabelle. 2021. Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy. In International journal of molecular sciences, 22, . doi:10.3390/ijms22157875. https://pubmed.ncbi.nlm.nih.gov/34360642/
2. Edington, Alia R, Connor, Olivia M, Marlar-Pavey, Madeleine, Friedman, Jonathan R. 2024. Human CCDC51 and yeast Mdm33 are functionally conserved mitochondrial inner membrane proteins that demarcate a subset of organelle fission events. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.03.21.586162. https://pubmed.ncbi.nlm.nih.gov/38562768/
3. Edington, Alia R, Connor, Olivia M, Love, Abigail C, Marlar-Pavey, Madeleine, Friedman, Jonathan R. 2024. Functionally conserved inner mitochondrial membrane proteins CCDC51 and Mdm33 demarcate a subset of fission events. In The Journal of cell biology, 224, . doi:10.1083/jcb.202403140. https://pubmed.ncbi.nlm.nih.gov/39718510/
4. Gosney, Julie A, Wilkey, Daniel W, Merchant, Michael L, Ceresa, Brian P. 2018. Proteomics reveals novel protein associations with early endosomes in an epidermal growth factor-dependent manner. In The Journal of biological chemistry, 293, 5895-5908. doi:10.1074/jbc.RA117.000632. https://pubmed.ncbi.nlm.nih.gov/29523688/
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