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Novel genetic mouse model for neurodevelopmental disorders

The hemizygous 15q13.3 microdeletion is associated with increased risk of schizophrenia, epilepsy, autism and intellectual disability. A mouse model of the human 15q13.3 hemizygous microdeletion syndrome has previously been generated. Characterization of the model identified phenotypes related to schizophrenia and epilepsy. Human cases of homozygous microdeletion carriers have also been reported, all with severe impairments.

Annika Forsingdal, Industrial PhD student, H. Lundbeck A/S

 About the study

We hypothesized that 15q13.3 homozygous knockout mice might display stronger phenotypes than 15q13.3 hemizygous mice and thereby facilitate mechanistic studies that investigate the biology underlying these phenotypes. This is the first study of 15q13.3 homozygous knockout mice, Df(h15q13)?/?.  We show that Df(h15q13)?/? mice display strong phenotypes related to epilepsy, autism and schizophrenia.

The article “15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes” was published in “Translational Psychiatry, 2016 Jul 26;6(7).

Facts about the study

  • Df(h15q13)?/? mice exhibited a strong but complex seizure threshold phenotype in response to the GABA(A) antagonist PTZ with increased propensity for early-stage seizures and a decreased propensity for full clonic seizures
  • Df(h15q13)?/? mice exhibited stereotypic repetitive behavior
  • Df(h15q13)?/? mice exhibited change in social behavior
  • Df(h15q13)?/? mice exhibited communication abnormalities

Further information

Annika Forsingdal, MSc Molecular Biomedicine, Industrial PhD student at Institute for Biological Psychiatry and H. Lundbeck A/S, angf@lundbeck.com