Transgenic Mouse Model for Marfan Syndrome Research

Description:

A genetically modified mouse model carrying the FBN1Q2469X mutation enables advanced study of systemic Marfan Syndrome manifestations and therapeutic development. This innovative transgenic mouse model incorporates a mutation analogous to the human FBN1Q2467X gene mutation linked to Marfan Syndrome, resulting in fibrillin-1 deficiency and connective tissue abnormalities. Developed using CRISPR/Cas9 gene-editing, the model replicates the multisystemic clinical features of the disease, facilitating in-depth investigation of disease mechanisms and therapeutic strategies.

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Key Advantages:

• Accurately mimics human Marfan Syndrome clinical variability and systemic manifestations
• Enables study of molecular pathways such as TGF-β and ERK1/2 signaling in disease progression
• Supports testing of pharmaceutical and mechanical interventions in a controlled, reproducible setting
• Facilitates biomarker discovery and diagnostic tool development
• Comprehensive validation including genetic, histological, and molecular analyses
• Overcomes limitations of prior mouse models that poorly replicate Marfan Syndrome complexity
• Provides a reliable platform to study multisystem effects of fibrillin-1 deficiency
• Addresses need for effective preclinical testing of treatments targeting connective tissue disorders
• Enables exploration of oxidative stress and inflammation roles in Marfan pathology

Market Opportunities:

• Pharmaceutical development targeting cardiovascular, ocular, skeletal, pulmonary, metabolic, and hepatic complications
• Diagnostic biomarker identification for early disease detection and prognosis
• Preclinical evaluation of novel therapies for Marfan Syndrome and related connective tissue disorders
• Academic and industry research into connective tissue disease mechanisms and intervention strategies

Patent Status:

Pending