Application
Mouse models with the deletion of 3q29 for the study of neurological disorders such as schizophrenia, autism, and anxiety disorders.
Technical Summary
Copy Number Variants (CNV’s) are large genomic deletion or duplications. One of the CNV’s, the 3q29 deletion, confers more than 40 fold increase in risk of schizophrenia. Most people with a 3q29 microdeletion have delayed development (particularly speech delay) and mild or moderate intellectual disability. They also have an increased risk of behavioral or psychiatric disorders, including autism spectrum disorder (which affects social interaction and communication), anxiety, bipolar disorder, and schizophrenia.
Emory University researchers have developed mice with deletion of the 3q29 region. Within the 3q29 region, DLG1 is the gene of interest due to sequence variants observed in schizophrenic patients. This model may be used for studying schizophrenia, autism, and anxiety disorders.
Publications
Mulle, J.G. et al. (2010). The American Journal of Human Genetics, 87(2), 229-236.
Mulle, J.G. et al. (2015). Molecular Psychiatry, 20, 1028-1029.