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  4. Cyagen Point Mutation Mice: Your Best Clinical Research Option!

It is widely known that single-nucleotide polymorphisms (SNPs) are primary factors that result in population diversity and clinical manifestations of disease – playing an essential role in personalized medicine. After researchers obtain clinical samples from the cohort(s), a large number of SNP candidate loci can be generated through second-generation sequencing and genome-wide association (GWA) analysis. However, in vivo research is necessary to verify the relationship between the SNP loci and clinical manifestations. If these SNPs are found in mice, point mutation mouse models can provide valuable information for clinical research.

Advance your SNP studies with the point mutation mouse model data bank independently developed by Cyagen, which can be used to quickly identify mouse mutation site(s) corresponding to the human SNP candidate loci and generate a mutation mouse model strategy. In order to further clinical research, precision medicine, and new drug research on this topic, we are hereby providing up to 15% off point mutation mice!

Service Name Number of Projects Promotion Price (USD/Strain) Promotional Savings Model Ordering
CRISPR-Pro Point Mutation Mice 1-2 Projects $13,000 Save up to $3000
CRISPR-Pro Point Mutation Mice ≥3 Projects $12,000 Save up to $10000
CRISPR-Pro Point Mutation Mice ≥5 Projects $11,250 Save over $16000+
■ Promotion Period: May 15th 2022 – August 15th 2022
■ Eligibility: End clients in India. Contact us for availability in other regions.
Case Study

Cyagen offers rapid point mutation mouse model generation via CRISPR/Cas9-mediated genome editing technology by co-injecting nuclease and oligo donors carrying the desired mutation and homology arms. In this case, the Calca gene was chosen as a target, and guide RNAs (gRNAs) were designed. The gRNA, the donor oligo containing mutation and synonymous mutation (c.1138_1139 [TG to CC]), and Cas9 were co-injected into fertilized mouse eggs to generate targeted point mutation knockin offspring.

Diagram 1. The schematic describes the first stage in developing a point mutation mouse model via CRISPR.

PCR Results:

Figure 1. PCR genotype screening of the F1 mice. Agarose gel electrophoresis of PCR results in F1 mice (#2, 4, 5, 8, and others) with site-specific gene knock-in.

The PCR product will be used for sequencing confirmation.

Figure 2. Representative illustration sequence analyses of F1 mice confirm F1 animals 2, 4, 5, and 8 with c.1138_1139 (TG to CC) mutation.

Publications
  • Peng, Kun et al. “MAdCAM-1 mediates retinal neuron degeneration in experimental colitis through recruiting gut-homing CD4+ T cells.” Mucosal immunology vol. 14,1 (2021): 152-163. doi:10.1038/s41385-020-0282-x
  • Di Genua, Cristina et al. “C/EBPα and GATA-2 Mutations Induce Bilineage Acute Erythroid Leukemia through Transformation of a Neomorphic Neutrophil-Erythroid Progenitor.” Cancer cell vol. 37,5 (2020): 690-704.e8. doi:10.1016/j.ccell.2020.03.022
  • de Bellis, Manuela et al. “Orthogonal arrays of particle assembly are essential for normal aquaporin-4 expression level in the brain.” Glia vol. 69,2 (2021): 473-488. doi:10.1002/glia.23909
  • Rasmussen, Marit et al. “PARP7 and Mono-ADP-Ribosylation Negatively Regulate Estrogen Receptor α Signaling in Human Breast Cancer Cells.” Cells vol. 10,3 623. 11 Mar. 2021, doi:10.3390/cells10030623
  • Škorić-Milosavljević, Doris et al. “Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.” Genetics in medicine : official journal of the American College of Medical Genetics vol. 23,10 (2021): 1952-1960. doi:10.1038/s41436-021-01212-y
  • Liu, Jun et al. “OSMRβ mutants enhance basal keratinocyte differentiation via inactivation of the STAT5/KLF7 axis in PLCA patients.” Protein & cell vol. 12,8 (2021): 653-661. doi:10.1007/s13238-020-00818-3
  • Wang, Wencai et al. “Mutation-induced DNMT1 cleavage drives neurodegenerative disease.” Science advances vol. 7,36 (2021): eabe8511. doi:10.1126/sciadv.abe8511
  • Sun, Gan et al. “Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.” Journal of clinical immunology, 10.1007/s10875-022-01243-3. 9 Mar. 2022, doi:10.1007/s10875-022-01243-3
  • Bieri, Cornelia et al. “The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.” Scientific reports vol. 12,1 6102. 12 Apr. 2022, doi:10.1038/s41598-022-10046-w
  • Dai, Lei et al. “A Biallelic Frameshift Mutation in Nephronectin Causes Bilateral Renal Agenesis in Humans.” Journal of the American Society of Nephrology : JASN vol. 32,8 (2021): 1871-1879. doi:10.1681/ASN.2020121762
FAQ
Where do your mice come from?
Our main source of mice is Charles River Laboratory. Currently, only mice from Charles River laboratory, Jackson Laboratory and Taconic are allowed into our facility.
How do you generate conditional point mutant mice?
Conditional point mutant mice can be generated by introducing the Cre-Loxp system. A conditional point mutation mouse model introduces a point mutation only when certain conditions are met. When Cre recombinase is present, a point mutation will be introduced into the mouse genome tissue specifically via Cre activity. This is done by introducing the targeting vector containing the point mutation, along with strategic use of the Lox regions (known as ‘floxing’ genes). When desired, Cre expression can be induced, which will ultimately lead to activation of transcription of the gene containing the point mutation.
How do you identify point mutant knock-in mice generated using CRISPR?
Since the point mutation is only the addition, deletion, or substitution of a single base or a few bases, the size of the mutant fragment and the wild-type band are indistinguishable on the electropherogram. Therefore, it cannot be identified by PCR alone, and it needs to be confirmed with sequencing to identify the point mutation was successful.

Promotion for Conditional Knockout Mice

Conditional knockout mice play a vital role in biomedical advancements across many research areas which is essential for understanding human diseases and accelerating drug development. For a limited time, get your conditional knockout (cKO) mice for only $8,000 from our selection of Cyagen AI Knockout Mouse Model eBank. Take advantage of this promotion before it ends!