This study examines the effects of a specific missense mutation, C667F, in the β-dystroglycan gene (Dag1) on embryonic development, muscle integrity, and blood-brain barrier stability in mice. The research aims to understand how this mutation impacts the dystroglycan complex's function and contributes to disease phenotypes.
Mice homozygous for the C667F mutation exhibited embryonic lethality, severe muscle pathology, and compromised blood-brain barrier integrity. These findings highlight the critical role of β-dystroglycan in embryonic development and maintaining muscle and neural tissue stability.
The study utilized a Knockin mouse model developed in collaboration with genOway. This model harbors the C667F point mutation in the Dag1 gene, introduced via homologous recombination. The mutation is designed to mimic a pathological condition, allowing for the investigation of its effects on protein function and associated physiological outcomes.
Muscular dystrophy, Congenital disorders, Neuromuscular diseases, Blood-brain barrier dysfunction, Developmental biology
Knockin model, Point mutation, Homologous recombination, Disease modeling, Genetic engineering
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