Duplication-based genetic dissection of the Down syndrome critical region reveals its complex functional organization.

Abstract excerpt

Down syndrome (DS), associated with trisomy 21, is the most common genetic cause of developmental delay and intellectual disability, yet the specific dosage-sensitive genes and the associated genetic mechanisms underlying these phenotypes remain incompletely defined. Here, we applied an additive genetic strategy to dissect the Down syndrome critical region (DSCR) by generating 2 complementary mouse models using...

Topics

• Animals
• Down Syndrome
• Mice
• Disease Models, Animal
• Gene Duplication
• Phenotype