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C57BL/6JCya-Polgem1flox/Cya
Common Name:
Polg-flox
Product ID:
S-CKO-04377
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Polg-flox
Strain ID
CKOCMP-18975-Polg-B6J-VA
Gene Name
Polg
Product ID
S-CKO-04377
Gene Alias
PolgA
Background
C57BL/6JCya
NCBI ID
18975
Modification
Conditional knockout
Chromosome
7
Phenotype
MGI:1196389
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-Polgem1flox/Cya mice (Catalog S-CKO-04377) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000073889
NCBI RefSeq
NM_017462
Target Region
Exon 4~10
Size of Effective Region
~3.3 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Polg, also known as DNA polymerase gamma, is the gene encoding the mitochondrial DNA polymerase responsible for the replication of the mitochondrial genome [1,2,3]. This process is crucial for maintaining mitochondrial function, which is essential for cellular energy production and various biological processes. Genetic models, like the zebrafish polg2 mutant line, can be valuable for studying Polg-related functions [4].

Mutations in Polg are the most common cause of inherited mitochondrial disorders, with around 2% of the population carrying these mutations [1]. The resulting POLG-related disorders present a continuum of phenotypes from infancy to late adulthood, including Alpers-Huttenlocher syndrome, childhood myocerebrohepatopathy spectrum, myoclonic epilepsy myopathy sensory ataxia, ataxia neuropathy spectrum, autosomal recessive and dominant progressive external ophthalmoplegia [1,2]. In the zebrafish polg2 knock-out model, mutants recapitulate human POLG-related phenotypes such as mitochondrial DNA depletion, altered mitochondrial network and dynamics, and reduced mitochondrial respiration, along with morphological and locomotor defects [4].

In conclusion, Polg is essential for mitochondrial DNA replication and maintaining mitochondrial function. Studies using genetic models, like the zebrafish polg2 knock-out, have revealed its role in POLG-related disorders, which are a significant cause of inherited mitochondrial diseases. Understanding Polg function provides insights into the pathophysiology of these disorders and may inform future treatment strategies.

References:
1. Rahman, Shamima, Copeland, William C. . POLG-related disorders and their neurological manifestations. In Nature reviews. Neurology, 15, 40-52. doi:10.1038/s41582-018-0101-0. https://pubmed.ncbi.nlm.nih.gov/30451971/
2. Wong, Lee-Jun C, Naviaux, Robert K, Brunetti-Pierri, Nicola, Waters, Paula J, Copeland, William C. . Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. In Human mutation, 29, E150-72. doi:10.1002/humu.20824. https://pubmed.ncbi.nlm.nih.gov/18546365/
3. Nicholas Russo, S, Shah, Ekta G, Copeland, William C, Koenig, Mary Kay. 2022. A new pathogenic POLG variant. In Molecular genetics and metabolism reports, 32, 100890. doi:10.1016/j.ymgmr.2022.100890. https://pubmed.ncbi.nlm.nih.gov/35860755/
4. Brañas Casas, Raquel, Zuppardo, Alessandro, Risato, Giovanni, Argenton, Francesco, Tiso, Natascia. 2024. Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment. In Cell death & disease, 15, 281. doi:10.1038/s41419-024-06622-9. https://pubmed.ncbi.nlm.nih.gov/38643274/
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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