| First Author | Jiang DY | Year | 2018 |
| Journal | Mol Brain | Volume | 11 |
| Issue | 1 | Pages | 31 |
| PubMed ID | 29859117 | Mgi Jnum | J:272181 |
| Mgi Id | MGI:6282596 | Doi | 10.1186/s13041-018-0375-6 |
| Citation | Jiang DY, et al. (2018) GABAergic deficits and schizophrenia-like behaviors in a mouse model carrying patient-derived neuroligin-2 R215H mutation. Mol Brain 11(1):31 |
| abstractText | Schizophrenia (SCZ) is a severe mental disorder characterized by delusion, hallucination, and cognitive deficits. We have previously identified from schizophrenia patients a loss-of-function mutation Arg(215)-->His(215) (R215H) of neuroligin 2 (NLGN2) gene, which encodes a cell adhesion molecule critical for GABAergic synapse formation and function. Here, we generated a novel transgenic mouse line with neuroligin-2 (NL2) R215H mutation. The single point mutation caused a significant loss of NL2 protein in vivo, reduced GABAergic transmission, and impaired hippocampal activation. Importantly, R215H KI mice displayed anxiety-like behavior, impaired pre-pulse inhibition (PPI), cognition deficits and abnormal stress responses, recapitulating several key aspects of schizophrenia-like behaviors. Our results demonstrate a significant impact of a single point mutation NL2 R215H on brain functions, providing a novel animal model for the study of schizophrenia and neuropsychiatric disorders. |
