GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:18227507
| Citation |
Jamain, S, Radyushkin, K, Hammerschmidt, K, Granon, S, Boretius, S, Varoqueaux, F, Ramanantsoa, N, Gallego, J, Ronnenberg, A, Winter, D, Frahm, J, Fischer, J, Bourgeron, T, Ehrenreich, H and Brose, N (2008) Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism. Proc. Natl. Acad. Sci. U.S.A. 105:1710-5 |
|---|---|
| Abstract |
Autism spectrum conditions (ASCs) are heritable conditions characterized by impaired reciprocal social interactions, deficits in language acquisition, and repetitive and restricted behaviors and interests. In addition to more complex genetic susceptibilities, even mutation of a single gene can lead to ASC. Several such monogenic heritable ASC forms are caused by loss-of-function mutations in genes encoding regulators of synapse function in neurons, including NLGN4. We report that mice with a loss-of-function mutation in the murine NLGN4 ortholog Nlgn4, which encodes the synaptic cell adhesion protein Neuroligin-4, exhibit highly selective deficits in reciprocal social interactions and communication that are reminiscent of ASCs in humans. Our findings indicate that a protein network that regulates the maturation and function of synapses in the brain is at the core of a major ASC susceptibility pathway, and establish Neuroligin-4-deficient mice as genetic models for the exploration of the complex neurobiological disorders in ASCs. |
| Links |
PubMed PMC2234209 Online version:10.1073/pnas.0711555105 |
| Keywords |
Amino Acid Sequence; Animals; Autistic Disorder/genetics; Autistic Disorder/physiopathology; Autistic Disorder/psychology; Brain/anatomy & histology; Carrier Proteins/genetics; Communication; Disease Models, Animal; Membrane Proteins/genetics; Memory; Mice; Mice, Knockout; Molecular Sequence Data; Organ Size; Social Behavior; Synapses/physiology; Ultrasonics; Vocalization, Animal |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| edit table |
See also
References
See Help:References for how to manage references in GONUTS.
