Ube3a (ubiquitin protein ligase E3A) encodes an imprinted gene that is part of the ubiquitin protein degradation system. In neurons, the paternal Ube3a allele is silenced by the process of genomic imprinting, specifically it is repressed by the UBE3A antisense transcript (UBE3A-ATS). In non-neuronal cells, Ube3a is expressed from both the maternal and paternal alleles. The maternal gene is expressed in brain and bi-allelically in other tissues. Maternal deletion of Ube3a causes Angelman syndrome, a complex disorder that affects the nervous system resulting in developmental delays, speech and balance problems, intellectual disability, EEG abnormalities, and sleep disturbance. Ube3a&Delta;e6 knock-out mice were created using CRISPR/cas9 genome editing to delete exon 6 of the Ube3a locus resulting in a null allele. RT-ddPCR analysis of heterozygous maternal mice indicates that Ube3a mRNA is reduced in brain and liver. Findings from western blot analysis indicate that the protein levels in the brain of heterozygous mice are 2-17% of wild type. Mice heterozygous for the mutation are viable and fertile. The donating investigator has generated homozygotes but has not attempted to breed them. Maternally deleted (Ube3a&Delta;e6/p+) Ube3a mice exhibit abnormal electroencephalogram (EEG) rhythms, sleep disturbance (a selective reduction in REM sleep), epileptiform activity, decreased motor coordination (rotarod), reduced marble burying (a measure of anxiety and compulsiveness), reduced activity in response to constant light, and reduced levels of stress-related hormones (corticosterone, norepinephrine).

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Ube3a&Delta;e6 knock-out mice have exon 6 of the Ube3a (ubiquitin protein ligase E3A) locus deleted resulting in a premature stop codon. In neurons, the paternal Ube3a allele is silenced by the process of genomic imprinting. Deletion of the maternal allele causes Angelman syndrome, a neurodevelopmental disorder. Maternally deleted heterozygous mice (Ube3a&Delta;e6/p+) exhibit abnormal EEG rhythms, sleep disturbance, decreased coordination, and behavioral alterations. This strain maybe useful as a model of Angelman syndrome.

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