Schizophrenia and DiGeorge syndrome

22q11.2 deletion

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion in the 22q11.2 locus on human Chromosome 22. The 22q11.2 deletion syndrome affects 1 in 2,000 – 4,000 individuals. Symptoms vary, but often include intellectual disability, heart problems, specific facial features and psychiatric disorders. Related to the latter, it causes a 20-fold increased risk of schizophrenia.

22q11 mouse models

Several research groups have genetically engineered a 22q11.2 microdeletion in the orthologous genomic region in mice. These 22q11 mouse models show consistent changes relevant to intellectual disability and schizophrenia. Numerous publications have described and characterized these models in the context of schizophrenia and cognition in the past decades. The 22q11 mouse models are perceived as highly translational relevant due to the genetic and phenotypic similarities between the mouse model and patients.

Deficits in 22q11 mouse models

At Sylics, using our own tests and protocols, we have validated the presence of relevant behavioral changes in a 22q11 model originally developed by a research team headed by Dr. M. Didriksen at Lundbeck A/S1. For instance, mice carrying the 22q11 deletion show a robust deficit in sensorimotor gating measured as the percentage of prepulse inhibition (PPI) of a startle response. Furthermore, in line with various publications on working memory deficits in 22q11 models, we detected significant deficits in working memory performance in terms of re-entry errors in the 8-arm radial maze.

Sylics is partner in an EU funded research consortium COSYN, aiming to address the basis of intellectual disabilities (ID), autism, and schizophrenia by studying the genes and pathways involved in these diseases. The 22q11 cell and mouse models play a crucial role in this consortium.

Drug discovery studies

This model is available for fee-for-service drug discovery studies at Sylics. For further information on this model and possibilities, please contact us at info@sylics.com

1Persistent gating deficit and increased sensitivity to NMDA receptor antagonism after puberty in a new mouse model of the human 22q11.2 microdeletion syndrome: a study in male mice. Didriksen et al., J Psychiatry Neurosci. 2017 Jan;42(1):48-58