| 22215 | O08759 | UBE3A_MOUSE | Ubiquitin-protein ligase E3A (EC 2.3.2.26) (HECT-type ubiquitin transferase E3A) (Oncogenic protein-associated protein E6-AP) | DISRUPTION PHENOTYPE | Mice with maternal deficiency display autism spectrum disorders, characterized by motor dysfunction, inducible seizures and a context-dependent learning deficit (PubMed:9808466, PubMed:11895368). Long-term potentiation (LTP) is severely impaired despite normal baseline synaptic transmission and neuroanatomy (PubMed:9808466). The cytoplasmic abundance of p53/TP53 is increased in postmitotic neurons (PubMed:9808466). Accumulation of ARC protein in neurons, resulting in the excessive internalization of AMPA receptors (AMPARs) at synapses and impaired synaptic function (PubMed:20211139). {ECO:0000269|PubMed:11895368, ECO:0000269|PubMed:20211139, ECO:0000269|PubMed:9808466}. |