Angelman Syndrome (AS) Animal Model Service
Genetically engineered animal models of Angelman syndrome (AS) recapitulate UBE3A loss-of-function and associated neurological defects, enabling mechanistic studies and therapeutic development for this neurodevelopmental disorder. Protheragen delivers comprehensive animal model development services to support preclinical drug validation and accelerate therapeutic advancement for AS.
Introduction to Angelman Syndrome (AS) Animal Models
Animal models of Angelman syndrome (AS) are essential tools for studying this severe neurogenetic disorder caused by loss of function of the UBE3A gene. These models, including Ube3a knockout and gene-edited rodents, recapitulate core clinical features such as movement disorders, seizures, cognitive impairment, and abnormal EEG patterns. They provide a critical platform for studying synaptic dysfunction, neurodevelopmental mechanisms, and potential therapeutic strategies, thereby accelerating the development of effective treatments for AS.
Fig.1 AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome. (Campbell A, et al., 2022)
Challenges in Angelman Syndrome (AS) Animal Model Development
The development of biologically and clinically relevant animal models for Angelman syndrome (AS) faces several significant challenges, primarily stemming from the complex genetics and neurobiological characteristics of the disorder:
- Genetic Complexity: Faithfully replicating the parent-of-origin specific silencing of the paternal UBE3A allele in animals requires sophisticated genetic engineering approaches.
- Species Limitations: Rodent models imperfectly mimic human neurodevelopment and behavior, limiting their ability to fully capture cognitive and motor deficits.
- Phenotypic Gaps: Reproducing the full spectrum of human AS symptoms, particularly speech absence and characteristic EEG patterns, in animals remains difficult.
- Biomarker Limitations: The lack of reliable non-invasive biomarkers hinders longitudinal monitoring of disease progression and treatment response in animal models.
Our Services
To address the complex challenges in Angelman syndrome (AS) animal model development, Protheragen leverages advanced genetic engineering technologies and deep neurobiological expertise to deliver rigorously validated models that faithfully recapitulate UBE3A-related pathogenesis and core disease phenotypes. Our tailored approaches ensure accurate genomic imprinting manipulation, species-specific optimization, and comprehensive phenotypic characterization, providing researchers with reliable tools to advance therapeutic discovery for AS.
Angelman Syndrome (AS)
| Model Name | Ube3a-KO Mice |
| Model Type | Genetically Engineered Mouse Model (GEMM) |
| Modeling Method | Knockout |
| Targeted Disease | Angelman Syndrome |
| Sales Status | Embryo Cryopreservation |
| Detailed Description | Exon 5 of Ube3a gene was deleted to generate Ube3a knockout mice. |
| Applications & Therapeutic Areas | Diseases associated with UBE3A include Angelman syndrome and Angelman syndrome due to a point mutation. |
Case Study-Ube3am-/p+ Mouse Model
- Species: F1 hybrid 129S2-C57BL6/J Mouse
- Modeling Method: Experimental WT and Ube3am-/p+ littermates were generated by crossing female Ube3am+/p- mice and male WT mice.
Fig.2 The open field test revealed that Angelman syndrome (AS) mice were significantly hypoactive, demonstrating a marked decrease in total movement distance (A) and marble-burying behavior (C), along with reduced center time (B), compared to wild-type (WT) mice. These results indicate pronounced hypoactivity and reduced exploratory behavior in the AS mouse model.
Protheragen is dedicated to advancing the study of rare neurodevelopmental disorders through the development of highly representative animal models. These models serve as indispensable tools in preclinical research, enabling robust evaluation of pharmacodynamics (PD), pharmacokinetics (PK), and toxicological profiles. If you are interested in our animal model development services, please do not hesitate to contact us for more details and quotation information.
Reference
- Campbell A, Morris G, Sanfeliu A, et al. AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome[J]. Molecular Therapy Nucleic Acids, 2022, 28: 514-529.