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C57BL/6JCya-Msh6em1flox/Cya
Common Name:
Msh6-flox
Product ID:
S-CKO-18269
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Msh6-flox
Strain ID
CKOCMP-17688-Msh6-B6J-VB
Gene Name
Msh6
Product ID
S-CKO-18269
Gene Alias
GTBP; Gtmbp
Background
C57BL/6JCya
NCBI ID
17688
Modification
Conditional knockout
Chromosome
17
Phenotype
MGI:1343961
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-Msh6em1flox/Cya mice (Catalog S-CKO-18269) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000005503
NCBI RefSeq
NM_010830
Target Region
Exon 4
Size of Effective Region
~3.0 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Msh6, a key DNA mismatch repair (MMR) gene, is crucial for maintaining genomic stability by rectifying errors that occur during DNA replication [2,6]. It functions as part of the MMR system, which is involved in pathways related to preventing mutations and maintaining the integrity of the genome, thereby playing a significant role in preventing cancer development [2,3,4,5,6,8].

Germline Msh6 mutations are more prevalent in endometrial cancer patient cohorts (3.8% truncating and 2.9% missense) compared to hereditary non-polyposis colorectal cancer (HNPCC) cohorts (2.6% truncating and 4.4% missense), and genomic rearrangements are not a major contributor to Msh6 mutations [1]. In Lynch syndrome, variants in Msh6 are difficult to classify due to low cancer penetrance, but two integrated functional-analysis-based procedures can effectively classify these variants [2]. Among microsatellite instability-high solid tumors, Msh6 mutations are the most common (25.7% among tumors with MMR gene mutations), and tumor mutational burden varies based on the underlying MMR gene alterations and tumor histology [3]. Msh6 mutations are associated with lower cancer risks compared to MLH1 or MSH2 mutations in Lynch syndrome [4]. Maternal exposure to dibutyl phthalate can regulate Msh6 crotonylation, impairing homologous recombination in fetal oocytes [7].

In conclusion, Msh6 is essential for DNA mismatch repair and genomic stability. Research on Msh6, including studies involving its mutations, has provided insights into its role in various cancer-related conditions such as endometrial cancer, HNPCC, and Lynch syndrome, as well as its impact on early meiotic events in fetal oocytes. Understanding Msh6 is crucial for uncovering the mechanisms of cancer development and reproductive disorders.

References:
1. Devlin, Lisa A, Graham, Colin A, Price, John H, Morrison, Patrick J. . Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. In The Ulster medical journal, 77, 25-30. doi:. https://pubmed.ncbi.nlm.nih.gov/18269114/
2. Drost, Mark, Tiersma, Yvonne, Glubb, Dylan, Tavtigian, Sean V, de Wind, Niels. 2020. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome. In Genetics in medicine : official journal of the American College of Medical Genetics, 22, 847-856. doi:10.1038/s41436-019-0736-2. https://pubmed.ncbi.nlm.nih.gov/31965077/
3. Salem, Mohamed E, Bodor, J Nicholas, Puccini, Alberto, Marshall, John L, Hall, Michael J. 2020. Relationship between MLH1, PMS2, MSH2 and MSH6 gene-specific alterations and tumor mutational burden in 1057 microsatellite instability-high solid tumors. In International journal of cancer, 147, 2948-2956. doi:10.1002/ijc.33115. https://pubmed.ncbi.nlm.nih.gov/32449172/
4. Bonadona, Valérie, Bonaïti, Bernard, Olschwang, Sylviane, Lasset, Christine, Bonaïti-Pellié, Catherine. . Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. In JAMA, 305, 2304-10. doi:10.1001/jama.2011.743. https://pubmed.ncbi.nlm.nih.gov/21642682/
5. Mahalingam, Meera. . MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots. In The American Journal of dermatopathology, 39, 239-249. doi:10.1097/DAD.0000000000000633. https://pubmed.ncbi.nlm.nih.gov/28323777/
6. Frederiksen, Jane H, Jensen, Sara B, Tümer, Zeynep, Hansen, Thomas V O. 2021. Classification of MSH6 Variants of Uncertain Significance Using Functional Assays. In International journal of molecular sciences, 22, . doi:10.3390/ijms22168627. https://pubmed.ncbi.nlm.nih.gov/34445333/
7. Ma, Yidan, Mu, Xinyi, Gao, Rufei, Li, Fangfang, He, Junlin. 2023. Maternal exposure to dibutyl phthalate regulates MSH6 crotonylation to impair homologous recombination in fetal oocytes. In Journal of hazardous materials, 455, 131540. doi:10.1016/j.jhazmat.2023.131540. https://pubmed.ncbi.nlm.nih.gov/37167869/
8. Charames, G S, Millar, A L, Pal, T, Narod, S, Bapat, B. . Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium? In Human genetics, 107, 623-9. doi:. https://pubmed.ncbi.nlm.nih.gov/11153917/
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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