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Animal models | Associated phenotypes |
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UBE3Am-/p+ mice. Deletion of maternal Exon 2 of UBE3A [33–37]. | Cognitive and motor deficits and inducible seizures. Loss of UBE3A expression in neurons, reduced dendritic spine density and defect in hippocampal LTP. |
UBE3Am-/p+ mice. Deletion of maternal Exons 15 and 16 of UBE3A [38]. | Cognitive and motor problems, decreased REM sleep, and abnormal EEG, seizures. Loss of UBE3A expression in neurons. |
DelUBE3A-Gabrb3m-/p+ mice. 1.6 Mb maternal deletion disrupting UBE3A, Atp10a, and Gabrb3 loci [39]. | Increased ultrasonic vocalization, spontaneous seizures, abnormal EEG, impaired learning and memory. Loss of UBE3A expression in neurons. |
Mice generated with paternal duplication of central region of chromosome 7 (homologous to the human region 15q11-13) [40]. | Abnormal EEG, Gait ataxia, abnormal limb clasping, and startle response, hyperactivity. Loss of expression of UBE3A in Purkinje cells, hippocampus and olfactory bulb. |
Mice created with maternal deletion of central part of chromosome 7 through inheritable transgene insertion [41]. | Behavioural abnormalities are not reported. Mice show imprinted expression of UBE3A in cerebellum. |
Mice created with paternal duplication of chromosome 7 (corresponding to the region of human chromosome 15q11-13) [42]. | Abnormal ultrasonic vocalization, poor social interaction, and anxiety. Reduced UBE3A expression in brain. |
Mice with imprinting defect mutation (corresponding to human AS-IC) [43]. | Behavioural phenotypes are not reported. Reduced UBE3A expression in brain. |
Mice with large radiation-induced deletion of p30PUb [44]. | Behavioural phenotypes are not reported. |
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