Mouse Genome Informatics
ht
    Ube3atm1Alb/Ube3a+
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
growth/size/body
• mice with maternal Ube3a deficiency (inheriting null allele from mother) have significant reduction in body weight at 18 days of age; by 4 months, difference is gone
• starting at 3 months when this allele is inherited maternally

behavior/neurological
• impaired performance in a marble burying test when this allele is inherited maternally
• mice with maternal deficiency show deficits in context-dependent fear conditioning compared to littermates
• reduced freezing when this allele is inherited maternally
• mice with maternal deficiency exhibit impaired motor learning in accelerating rod test, staying on apparatus for significantly less time (193 sec) than wild-type (439 sec) on first day; by day 4, time difference was not significant
• mice with maternal deficiency cannot stay on rotating rod as long as wild-type (37.9 sec vs 72.3 sec) (J:50811)
• on an accelerating rotarod, wire hang test and dowel test when this allele is inherited maternally (J:207499)
• when this allele is inherited maternally
• mice with maternal deficiency have shorter step distance (5 cm) and reduced left-right step alternation coefficient (0.08) compared to wild-type littermates(5.9 cm, 0.14)
• Background Sensitivity: observed in 20-30% of mice with maternal deficiency on hybrid background
• mice with maternal deficiency are substantially more susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizures
• occasionally observed in mice with maternal deficiency
• longer abnormal EEG episodes in mice with maternal deficiency are accompanied by behavioral immobility which is characteristic of absence seizures

nervous system
• Background Sensitivity: observed in 20-30% of mice with maternal deficiency on hybrid background
• mice with maternal deficiency are substantially more susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizures
• occasionally observed in mice with maternal deficiency
• longer abnormal EEG episodes in mice with maternal deficiency are accompanied by behavioral immobility which is characteristic of absence seizures
• reduced in weight in mice at 18 days through 4 months of age with maternal deficiency
• reduced in weight at 18 days through 4 months of age in mice with maternal deficiency
• when inherited maternally, the dendritic spines on cerebellar Purkinje cells and hippocampal and cortical pyramidal neurons exhibit reduced spine density (1.228+/-0.055 spines per um compared to 1.614+/-0.076 spines per um in wild-type mice), a reduced number of spines along cortical apical dendrites (0.882+/-0.057 spines per um compared to 1.172+/-0.044 spines per um in wild-type mice), and reduced spine length (1.017+/-0.0454 um compared to 1.16+/-0.0038 um in wild-type mice)
• dendrites are thinner than in wild-type mice
• pyramidal dendrites exhibit varicosities along the secondary dendritic shaft unlike in wild-type mice
• EEG activity is abnormal with abundant bilateral 3 sec spike activity mixed with polyspike and slow wave discharges
• longer abnormal EEG episodes in mice with maternal deficiency are accompanied by behavioral immobility which is characteristic of absence seizures
• decaying LTP when this allele is inherited maternally
• hippocampal slices from mice with maternal deficiency display reduced LTP; high frequency stimulation only produces transient potentiation (short term potentiation) compared to LTP produced in wild-type

cellular
• inheritance of the maternal Ube3atm1Alb allele results in much more severe phenotypic effects compared to inheritance of the paternal allele (J:50811)
• this allele is maternally inherited and silenced in males by imprinting (J:130068)

Mouse Models of Human Disease
OMIM IDRef(s)
Angelman Syndrome; AS 105830 J:50811