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| Animal Model >> NBEA Details |
neurobeachin
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| Summary |
| Gene Symbol |
Nbea |
| Gene Name |
neurobeachin |
| Aliases |
Lyst2; mKIAA1544; Nbea |
| Model Species |
Mus musculus |
| Model Type |
Genetic |
| Model Summary |
Novel function of Nbea at central synapses that may be based on its presumed role in targeting membrane proteins to synaptic contacts, and are consistent with the 'excitatory-inhibitory imbalance' model of autism where Nbea gene rearrangements have been detected in some patients. |
| Number of Reports |
3 |
| Number of Models |
3 |
| External Links |
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ASD-associated variation model  |
ASD |
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| References |
| Primary |
Neurobeachin, a protein implicated in membrane protein traffic and autism, is required for the formation and functioning of central synapses.
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Medrihan L , et al. 2009
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19723784 |
| Additional |
Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic...
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Nuytens K , et al. 2012
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23153818 |
| Additional |
Enhanced LTP of population spikes in the dentate gyrus of mice haploinsufficient for neurobeachin
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Muellerleile J et al. 2020
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32994505 |
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