Ace Therapeutics specializes in developing Sh3pxd2b mutant mouse models for glaucoma research. By leveraging our expertise in genetic manipulation and phenotypic characterization, we help researchers advance their studies on early-onset glaucoma and associated neurodegenerative processes using our mouse models.
Sh3pxd2b: A Critical Gene in Glaucoma Pathogenesis
The Sh3pxd2b gene encodes an adaptor protein involved in podosome formation, cellular adhesion, and extracellular matrix remodeling. Mutations in Sh3pxd2b in humans are linked to Frank-Ter Haar syndrome, a rare condition characterized by congenital glaucoma, craniofacial dysmorphology, and skeletal abnormalities. In mice, the Sh3pxd2bnee mutation leads to early-onset glaucoma that recapitulates key aspects of human glaucoma, including elevated intraocular pressure (IOP), retinal ganglion cell (RGC) loss, and optic nerve degeneration. This model closely mirrors human disease pathology, making it invaluable for studying glaucoma progression and identifying therapeutic targets.
Fig. 1 Phenotypic analysis of B6. Sh3pxd2bnee mice. (Daniel S, et al., 2019)
Explore Our Sh3pxd2b Mutant Mouse Models of Glaucoma
Our Sh3pxd2b mutant mouse models are engineered to recapitulate the key pathophysiological features of human glaucoma, providing researchers with a robust platform to investigate disease mechanisms and evaluate novel therapeutic strategies.
The nee Mouse Models
Using the nee mouse models carrying a 1-bp deletion in the Sh3pxd2b gene, we support congenital glaucoma research through targeted in vivo studies. Our team can help clients evaluate IOP-lowering and neuroprotective therapeutics by assessing key phenotypes such as iridocorneal adhesions, corneal opacity, and RGC loss.
Conditional Knockout Models
For researchers requiring precise control over Sh3pxd2b inactivation, we can construct custom conditional knockout models. Through tissue-specific or temporally controlled ablation of Sh3pxd2b, our clients can conduct focused investigations into its role in specific ocular cell types and defined developmental stages.
Comprehensive Evaluation Services for Sh3pxd2b Mutant Mouse Models
Ace Therapeutics provides a comprehensive suite of downstream services to support phenotypic analysis and translational research. These services are crucial for characterizing Sh3pxd2b mutant mouse models and evaluating potential therapeutic strategies.
Ocular Phenotyping
- Measure IOP using validated tonometry methods
- Conduct slit lamp examination to assess anterior chamber structures
RGC Assessment
- Utilize immunolabeling and retinal flat-mounts to determine RGC density
Optic Nerve Assessment
- Perform axon counting to quantify nerve fiber loss
- Conduct qualitative assessments of axonal degeneration
Visual Function Assessment
- Electroretinography (ERG) to evaluate retinal function
- Optomotor response (OMR) to assess visual acuity and contrast sensitivity
Integrating scientific expertise with advanced technologies, Ace Therapeutics is committed to supporting glaucoma research. Combined with comprehensive evaluation services, our Sh3pxd2b mutant mouse models provide a robust foundation for understanding the mechanisms of glaucoma and developing effective therapeutics. Interested in our glaucoma mouse models? Please Contact us now!
Reference
- Daniel S, et al. Effect of ocular hypertension on the pattern of retinal ganglion cell subtype loss in a mouse model of early-onset glaucoma. Exp Eye Res, 2019, 185: 107703.