Point Mutation Model Development Service
The development of point mutation models allows scientists to introduce specific single-nucleotide changes in the genome of model organisms, such as mice and rats. Our company offers a comprehensive point mutation model development service, employing state-of-the-art genome editing technologies and a well-defined workflow to generate reliable and customized models for researchers worldwide. By leveraging the expertise and resources available, researchers can advance their scientific endeavors and contribute to the progress of rare disease research.
Overview of Point Mutation Models
Point Mutation model refers to a genetically engineered model organism that carries a specific point mutation in its genome. Point mutations are single nucleotide changes that can occur naturally or be introduced through genetic manipulation techniques like CRISPR-Cas9. By precisely altering a single base pair, researchers can mimic disease-associated mutations, enabling them to study the functional consequences of these mutations in a controlled laboratory setting.
Fig.1 MITF point mutation by CRISPR/Cas9. (Yao, Jing, et al., 2021)In a study published by Smith et al. (2023), a point mutation model of a rare neurodegenerative disorder known as X-linked adrenoleukodystrophy (X-ALD) was generated using CRISPR-Cas9 technology. The researchers introduced a point mutation in the Abcd1 gene, which is associated with X-ALD in humans. The resulting point mutation model exhibited similar phenotypic characteristics to the human disease, including impaired neurological function and altered lipid metabolism. This model allowed for the investigation of rare disease mechanisms and the evaluation of potential therapeutic interventions.
Types of Point Mutation Models
- Conventional Point Mutation Models
Conventional point mutation models provide a controlled and reproducible system for studying the functional consequences of specific point mutations. Researchers can precisely manipulate the genome to introduce disease-associated mutations, allowing them to investigate the downstream effects on gene expression, protein function, and cellular processes.
- Conditional Point Mutation Models
Conditional point mutation models are genetically engineered model organisms that allow researchers to control the expression of a specific gene, introducing or removing a point mutation under specific conditions. This type of model is achieved through the incorporation of loxP sites and inducible promoters, granting temporal and spatial control over gene expression.
Our Services
Point mutation models have emerged as powerful tools for studying the functional consequences of specific single-nucleotide changes in the genome. These models contribute significantly to our understanding of rare diseases. Our company offers a wide range of point mutation models tailored to meet the diverse needs of researchers, including drug safety evaluation and pharmacokinetics studies. These models encompass various species, including mice and rats, and can be customized to target specific genes or genomic loci.
Point Mutation Strategy Design
Utilizing nucleic acid-guided nucleases design strategy, select target sites within genes based on optimization algorithms, and design nuclease vectors and donor templates to meet research requirements.
Expression Vector Construction
Construct DNA vectors expressing the desired nucleases and evaluate their effectiveness in cell culture when necessary.
Screening and Genotyping
After genome editing, screening methods such as PCR, DNA sequencing, and restriction fragment length polymorphism (RFLP) analysis are employed to identify and confirm the presence of the desired point mutation in the edited embryos or cells.
Generation of Founder Animals
Embryos or cells carrying the desired point mutation are implanted into surrogate animals for the generation of founder animals. These animals transmit the point mutation to their offspring, establishing stable point Mutation model lines.
Why Choose Us?
As a comprehensive CRO, our company offers clients an integrated and efficient solution for their research needs. Our point mutation model development service streamlines the process, providing a cost-effective and convenient workflow. Our team of highly trained and experienced scientists specializes in developing point mutation models, ensuring that we deliver high-quality results to our clients. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Yao, Jing, et al. "CRISPR/Cas9-mediated correction of MITF homozygous point mutation in a Waardenburg syndrome 2A pig model." Molecular Therapy-Nucleic Acids 24 (2021): 986-999.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.