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Animal Models for Skeletal Rare Diseases

Animal Models for Skeletal Rare Diseases

Our team of experts has extensive experience in developing and characterizing animal models of skeletal rare diseases, as well as in providing a range of preclinical research services to support drug development. Our disease modeling services include the development of custom animal models of skeletal rare diseases using a variety of techniques, such as genetic engineering and chemical induction. We work closely with our clients to develop models that closely mimic the human disease phenotype and optimize models for specific research applications.

Background of Skeletal Rare Diseases

Skeletal rare diseases are a group of disorders that affect the development and maintenance of bone and cartilage tissues, leading to bone fragility, deformities, and growth abnormalities. These diseases are uncommon, with an estimated prevalence ranging from 1 in 10,000 to 1 in 100,000 individuals, depending on the specific disease. Due to their rarity and complexity, developing effective therapies is challenging. Currently, animal models have been used extensively in research on skeletal rare diseases to understand the underlying mechanisms of these diseases and test potential therapeutic interventions.

Rodents are the most widely used species for studying skeletal rare diseases. While rodents and humans have physiological differences, many signaling pathways in the musculoskeletal system are shared. This allows for the generation of mouse models that accurately mimic rare bone diseases in humans. These models provide a controlled population for study, under rigorous scientific conditions, with a genetically homogeneous background.

Fig. 1 Major genes that are causal for rare bone disorders.Fig. 1 Major genes that are causal for rare bone disorders. (Johnson M L, 2016)

Our Genetic Manipulation Strategies

With the gradual refinement and development of genetic strategies applied to experimental animals, it has become possible to generate animal models with a tissue-specific gain-of-function or loss-of-function of any gene of interest at an ever-increasing speed. We help our clients generate reliable animal models through the following strategies:

  • Transgenesis: applied to global or cell type-specific overexpression, cell type-specific Cre expression, and promoter enhancer gene reporter studies.
  • Gene targeting via homologous recombination: applied to gene knock-out and gene knock-in.
  • Gene editing using CRISPR: applied to gene knock-out, gene knock-in, and small and precise sequence changes.

Skeletal Rare Diseases Modeling Services

Our team of experienced and skilled scientists can rapidly identify genetic changes in individuals with known or novel skeletal abnormalities and rapidly create analogous changes in animal models using various genetic strategies. We have established specialized animal models for a variety of rare bone diseases to help our customers advance drug development.

Animal Models for Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by changes in type I collagen molecules that result in fragile bones, which leads to bone fragility and susceptibility to fracture, bone deformity, and growth deficiency.

Animal Models for X-linked Hypophosphatemia

X-linked Hypophosphatemia (XLH) is characterized by low phosphate levels in the blood and leads to clinical manifestations such as growth disorders, osteomalacia, skeletal abnormalities, hearing difficulties, osteoarthritis, and muscle dysfunction.

Animal Models for Fibrous Dysplasia

Fibrous dysplasia (FD) is a rare genetic bone disease characterized by the abnormal growth of fibrous tissue instead of normal bone. It can affect a single bone or multiple bones and may lead to skeletal deformities, fractures, and other complications.

Animal Models for Fibrodysplasia Ossificans Progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the progressive ossification of soft tissue, leading to bone formation in muscles, tendons, and ligaments.

Our Advantages

  • Our team includes experts in genetics, molecular biology, imaging, and preclinical research, who work together to develop and optimize disease models and provide a comprehensive range of research services.
  • We have state-of-the-art facilities and equipment that enable us to provide high-quality services to our clients.
  • We work closely with our clients to develop customized disease models and research plans, and we provide regular updates and feedback throughout the research process.

Our company is a leading provider of disease modeling services for skeletal rare diseases. We are committed to providing high-quality, reliable, and cost-effective disease modeling services for skeletal rare diseases to our clients, and ensuring that our studies are conducted in accordance with the highest ethical and scientific standards. If you are interested in our disease modeling services, please contact us for more information.


  • Johnson, M. L. How rare bone diseases have informed our knowledge of complex diseases. BoneKEy Reports, 2016, 5.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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