At Ace Therapeutics, we specialize in developing custom animal models that closely replicate human glaucoma to support advancements in glaucoma research and enhancing the development of candidate drugs. Our expertise in paired-like homeodomain transcription factor 2 (Pitx2) mutant mouse models of glaucoma enables researchers to gain deeper insights into the pathogenesis of glaucoma and develop effective therapeutics.
Pitx2: A Critical Gene in Glaucoma Pathogenesis
Glaucoma is a leading cause of blindness worldwide, affecting millions of people. Pitx2 plays a vital role in embryonic development and tissue morphogenesis, and PITX2 mutations in humans are associated with Axenfeld-Rieger syndrome (ARS), a developmental disorder frequently linked to early-onset glaucoma. Studies have shown that Pitx2 deficiency in mice disrupts anterior segment development, leading to elevated intraocular pressure (IOP), retinal ganglion cell (RGC) death, and optic nerve degeneration.
Fig. 1 Morphologic changes in anterior segments were found in Pitx2+/- mice. (Chen L S and Gage P J., 2016)
Explore Our Pitx2 Mutant Mouse Models of Glaucoma
Ace Therapeutics leverages genetic engineering technologies to develop custom Pitx2 mutant mouse models tailored to your specific research objectives.
Pitx2 Knockout (KO) Mouse Models of Glaucoma
We are dedicated to the construction of Pitx2 KO mouse models to study the effects of PITX2 loss of function on glaucoma development. Our heterozygous Pitx2 null mice (Pitx2+/- mice) can replicate major ocular features seen in human ARS and congenital glaucoma, including anterior segment dysgenesis such as decreased central corneal thickness, iris defects, and iridocorneal adhesions. Crucially, our Pitx2+/- mice develop elevated IOP and exhibit optic nerve head cupping and degeneration, alongside significant RGC loss.
Pitx2 Knock-in (KI) Mouse Models of Glaucoma
Our experts can also generate Pitx2 KI mouse models that incorporate specific PITX2 point mutations found in human glaucoma. For instance, our mouse models carrying the p.R115L missense mutation in Pitx2 demonstrate early-onset glaucoma with phenotypes mirroring human disease, including elevated IOP, anterior segment dysgenesis, RGC loss, and optic nerve damage.
The Importance of Our Pitx2 Mutant Mouse Models
Our custom mouse models of glaucoma enable us to support clients in:
- Unraveling the cellular and molecular mechanisms underlying PITX2-associated glaucoma
- Identifying and validating potential therapeutic targets
- Conducting preclinical assessments of potential therapeutics aimed at mitigating elevated IOP, protecting RGCs, and preserving vision
Comprehensive Pitx2 Mutant Mouse Model Evaluation Services
We offer a wide range of services to characterize Pitx2 mutant mouse models, investigate glaucoma pathogenesis, and assess novel drugs for glaucoma.
| Services | Details |
|---|---|
| Ocular phenotyping | We conduct detailed evaluations of ocular structures and functions, including slit-lamp examinations, fundus photography, optical coherence tomography (OCT), and IOP measurements. |
| Functional assessment | Employing electroretinography (ERG), we can assess retinal function and perform visual function testing to evaluate the impact of glaucoma on vision. |
| Histological and immunohistochemical analysis | We provide detailed tissue examination and protein expression analysis to identify cellular and molecular changes associated with glaucoma in Pitx2 mutant mouse models. |
| Molecular and biochemical analysis | By gene expression analysis, protein interaction studies, and oxidative stress measurements, we can help researchers elucidate the molecular mechanisms underlying PITX2-related glaucoma. |
At Ace Therapeutics, we are dedicated to providing one-stop services for your glaucoma research needs. Our custom Pitx2 mutant mouse models of glaucoma and related evaluation services can serve as powerful tools for studying glaucoma mechanisms and developing therapeutic strategies. If you are interested in our Pitx2 mutant mouse models, please contact us now.
Reference
- Chen L S and Gage P J. Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma. Invest Ophthalmol Vis Sci, 2016, 57(11): 5023-5030.