Ace Therapeutics specializes in the development of custom glaucoma mouse models with Pax6 gene mutations. These models enable our clients to study the underlying mechanisms of glaucoma and develop therapeutic strategies.
The Role of PAX6 in Glaucoma Pathogenesis
PAX6 is a highly conserved transcription factor critical for eye development. Mutations in the PAX6 gene are the primary cause of aniridia, a condition characterized by partial or complete loss of the iris. Patients with aniridia frequently develop various ocular complications, including congenital glaucoma. PAX6 haploinsufficiency can affect ocular development, resulting in elevated intraocular pressure (IOP), retinal ganglion cell (RGC) death, and other pathological changes associated with glaucoma. Studies have shown that PAX6 mutations affect not only the anterior eye segment but also the development of the retina and optic nerve, making PAX6 a key focus in glaucoma research.
Fig. 1 The development of the iridocorneal angle is impaired in the eyes of Pax6flox/+; Le-Cre mice. (Kroeber M, et al., 2010)
Pax6 Mutant Mouse Model Customization Services at Ace Therapeutics
Recognizing the critical need for physiologically-relevant animal models to study the complexities of PAX6-related glaucoma, our team of experts is committed to developing Pax6 mutant mouse models of glaucoma.
| Model Types | Details |
|---|---|
| Human mutation knock-in models | We can construct mouse models that carry specific Pax6 mutations identified in aniridia-associated glaucoma. We can develop mouse models with reduced Pax6 gene activity (haploinsufficiency) on different genetic backgrounds, exhibiting key features such as microphthalmia, iris defects, and elevated IOP. |
| Spatiotemporal conditional knockout models | Leveraging genetic techniques, we can selectively modify the Pax6 gene in specific ocular regions during various developmental stages or in adult mice. This enables researchers to determine spatiotemporal requirements for Pax6 in ocular development and gain insights into how disruptions in these patterns contribute to glaucoma pathogenesis. |
Comprehensive Preclinical Services for Pax6 Mutant Mouse Models
Ace Therapeutics offers a suite of preclinical services to support both the development and application of Pax6 mutant mouse models of glaucoma, including ocular phenotyping and therapeutic evaluation.
- IOP Measurement
Assess the efficacy of glaucoma therapeutics in Pax6 mutant mice by monitoring IOP changes. - Ocular Imaging and Structural Analysis
Utilize optical coherence tomography (OCT) to visualize retinal layers and quantify their thickness, alongside slit lamp microscopy and gonioscopy for evaluating anterior segment structures, iris morphology, corneal clarity, and iridocorneal angle status. - Visual Function Assessment
Evaluate the visual acuity in Pax6 mutant mice based on the optomotor response (OMR). - Optic Nerve Pathology Analysis
Examine the structure and axon density of the optic nerve by light and electron microscopy.
Ace Therapeutics has comprehensive capabilities to develop custom Pax6 mutant mouse models tailored to the specific needs of glaucoma research. With deep expertise in genetic engineering and model evaluation, we provide reliable glaucoma mouse models and insightful data to support preclinical research and therapeutic development. Contact us today to discuss your project needs.
Reference
- Kroeber M, et al. Reduced expression of Pax6 in lens and cornea of mutant mice leads to failure of chamber angle development and juvenile glaucoma. Hum Mol Genet, 2010, 19(17):3332-3342.