Understanding the Pathogenesis of Angelman Syndrome through Animal Models

Table 1

Mouse models of AS and their phenotypes.

Animal models	Associated phenotypes
UBE3A^m-/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.
UBE3A^m-/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-Gabrb3^m-/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.

Number in the brackets indicates references.