Prader-Willi Syndrome (PWS) Animal Model Service
Prader-Willi syndrome (PWS) animal models are genetically engineered systems designed to recapitulate loss of paternally expressed genes in the 15q11–q13 region, enabling the study of hyperphagia, metabolic dysfunction, and neurodevelopmental deficits for therapeutic development. Protheragen is dedicated to engineering highly physiologically relevant PWS animal models to accelerate and enhance preclinical drug development.
Introduction to Prader-Willi Syndrome (PWS) Animal Models
Prader-Willi syndrome (PWS) animal models are critically important tools for investigating this complex neurogenetic disorder caused by the loss of paternally expressed genes in the chromosome 15q11–q13 region. These models recapitulate key clinical features such as hyperphagia, hypotonia, developmental delays, and metabolic abnormalities. They provide essential platforms for elucidating epigenetic mechanisms, exploring hypothalamic dysfunction, and evaluating potential therapeutic strategies including gene activation and hormone-based treatments, thereby accelerating translational research for PWS.
Fig.1 Generation of Snord116−/− mice. (Qi Y, et al., 2016)
Types of Prader-Willi Syndrome (PWS) Animal Models
- Chromosomal Deletion Models: These models mimic the most common genetic cause of PWS by deleting the paternal Snrpn-Ube3a domain (or syntenic regions in mice) to disrupt paternally expressed genes.
- Uniparental Disomy (UPD) Models: UPD models replicate cases where both chromosomal copies are inherited from the mother, achieved through genetic cross strategies to create offspring with maternal duplication of the critical region.
- Imprinting Center (IC) Mutation Models: These models target microdeletions or mutations in the imprinting control region to disrupt the epigenetic regulation of parental-specific gene expression.
- Single-Gene or Multi-Gene Modification Models: Focused models with targeted mutations in specific PWS-related genes (e.g., Snord116, Magel2, Ndn) to study their individual contributions to the phenotype.
Our Services
Specializing in animal model development for rare neurodevelopmental disorders, Protheragen creates highly accurate and validated models for complex diseases like Prader-Willi syndrome (PWS). We provide researchers with powerful, customizable preclinical research tools that faithfully recapitulate the genetic and phenotypic characteristics of PWS, laying a critical foundation for studying disease mechanisms and evaluating novel therapeutic strategies.
Animal Models of Prader-Willi Syndrome (PWS)
| Model Name | Modeling Method | Sales Status | Tested Phenotypes |
| Snrpn-KO Mouse | Knockout | Embryo Cryopreservation | Growth retardation, neonatal lethality, respiratory defects, altered circadian rhythm |
| PWS-ICdel Mouse | Imprinting | Embryo Cryopreservation | Postnatal lethality, postnatal growth, reduced activity, abnormal behavior |
| Snrpntm2.1Kaj Mouse | Targeted Mutation | Embryo Cryopreservation | Viable, postnatal growth |
| Snord116tm1.1Uta Mouse | Imprinting | Embryo Cryopreservation | Viable, postnatal growth retardation after P2, low Igf1, Normal pituitary, lean body composition, fertile, delayed puberty, abnormal behavior, abnormal feeding and metabolism |
| Magel2-Wevrick Mouse | Targeted Mutation | Live | Prenatal lethality, normal postnatal viability, postnatal growth retardation, increased fat to muscle, abnormal endocrine function, abnormal hypoglycemia response, abnormal behavior, abnormal brain MRI, progressive infertility, abnormal metabolism, abnormal food consumption, abnormal circadian rhythm |
| Necdin tm1.1Mus-Knockout Mouse | Knockout | Embryo Cryopreservation | Postnatal lethality, respiratory defect, serotonergic, not obese, fertile, reduced hypothalamic GnRH neurons, small testes, normal motor function, abnormal behavior, defective muscle healing |
Case Study-Magel2 KO Mice and Necdin KO Mice
- Species: C57Bl6/J Mouse
- Modeling Method: Magel2 KO and Necdin KO mouse models are generated by targeted deletion of the paternal allele of the Magel2 or Necdin gene, respectively, within the Prader-Willi syndrome (PWS)-critical chromosomal region.
Fig.2 RT-qPCR analysis showing relative levels of Necdin and Magel2 mRNA in wild-type (WT), Magel2 KO, or Necdin KO male and female mice at P0 (n = 3-5 animals per group).
At Protheragen, we specialize in developing highly accurate animal models of Prader-Willi syndrome (PWS) to advance and streamline preclinical therapeutic research. If you are interested in our animal model development services, please do not hesitate to contact us for more details and quotation information.
Reference
- Qi Y, Purtell L, Fu M, et al. Snord116 is critical in the regulation of food intake and body weight[J]. Scientific reports, 2016, 6(1): 18614.