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X-Linked Hypophosphatemia (XLH)

Animal models of X-linked hypophosphatemia (XLH) have been essential in advancing our understanding of the disease and in the development of potential therapies. At our company, we offer a range of disease modeling services for XLH, including custom animal model generation and comprehensive characterization and validation. We also offer a range of services to complement our disease modeling services, including genetic engineering, cell culture, and drug screening. This allows us to provide a comprehensive suite of services to our clients, from model generation to drug discovery.

Background of XLH

XLH is a rare genetic disorder of phosphate metabolism that affects approximately 1 in 20,000 people worldwide. In this disorder, inactivating mutations of the Phosphate Regulating Endopeptidase HomologX-linked (PHEX) gene cause local and systemic effects. XLH is characterized by low phosphate levels in the blood and leads to manifestations such as growth disorders, osteomalacia, skeletal abnormalities, hearing difficulties, osteoarthritis, and muscle dysfunction.

Animal models have been developed to better understand its pathophysiology and test potential therapies. The first animal model of XLH was generated in mice by introducing a mutation in the Phex gene. This mutation led to excessive production of fibroblast growth factor 23 (FGF23), a hormone that decreases phosphate reabsorption in the kidneys and impairs bone mineralization. The phenotype of these mice closely mimics human XLH, making them a valuable tool for studying the disease.

Fig. 1 Symptomatology and pathophysiology of XLH.Fig. 1 Symptomatology and pathophysiology of XLH. (Beck-Nielsen S S, et al., 2022)

Our Services

Our experienced scientists offer reliable and professional disease modeling services, including XLH animal models. Each of our animal models has advantages and disadvantages, and the choice of model depends on the research question being addressed. Our services include, but are not limited to:

  • We provide our clients with mouse models with at least six different mutations of the Phex gene for studying XLH. The phenotype of these mice varies according to specific Phex mutations and mouse strains.
Name Mutation size and type Phex-specific
Gy Deletion (160-190 kb) N
Hyp Deletion (58 kb) N
Hyp-Duk Deletion (30 kb) Y
Hyp-2J Deletion (7.3 kb) Y
Ska1 Point mutation (1 bp) Y
Jrt Point mutation (1 bp) Y

Our wild-type and Phex mutant mice can be used to evaluate the efficacy of candidate compounds in improving bone mineralization and reducing phosphate consumption, in order to discover promising XLH therapies.

  • We help our clients generate XLH rabbit models through CRISPR-Cas-mediated inactivation of the PHEX gene.
  • We also offer a range of services to characterize and validate these models. This includes phenotypic analysis, histological analysis, and molecular analysis to confirm the presence and extent of the disease phenotype.

Serum biochemistry measurements
Fgf23 expression analysis
Cochlear function testing
Ossicle imaging using micro-computed tomography
Analysis of the percentage of voids (porosity, %), mean calcium content (CaMean, wt%), mineralization heterogeneity (CaWidth, wt%), and peak calcium content (CaPeak, wt%).
Analysis of the number of osteocyte lacunae (N.Ot.Lc/B.Ar, 1/mm2) and mean osteocyte lacunar area (Lc.Ar, μm2)

Our team of experienced scientists and our commitment to personalized service make us a leader in the disease modeling field. We work closely with our clients to understand their XLH research needs and provide customized solutions to meet those needs. This personalized approach ensures that our clients receive the highest quality data and the best possible outcomes to develop more effective XLH therapies. If you are interested in our disease modeling services, please contact us for more information.


  • Beck-Nielsen, S. S.; et al. FGF23 and its role in X-linked hypophosphatemia-related morbidity. Orphanet journal of rare diseases, 2019, 14(1): 1-25.

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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