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Phenotypes Associated with This Genotype
Genotype
MGI:3852128
Allelic
Composition
Ube3atm1Jwf/Ube3a+
Genetic
Background
B6.129S4-Ube3atm1Jwf
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3atm1Jwf mutation (0 available); any Ube3a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• when this allele is inherited maternally, mice exhibit less freezing 24 hours after contextual fear conditioning compared to similarly treated wild-type mice
• when the allele is inherited maternally, mice exhibit impaired performance in a Morris water maze compared with wild-type mice
• when the allele is inherited maternally, mice exhibit impaired performance on a rotarod compared with wild-type mice
• when this allele is inherited maternally during waking periods when cortical bursts are observed unlike in wild-type mice
• when this allele is inherited maternally during waking periods when cortical bursts are observed unlike in wild-type mice
• when this allele is inherited maternally, mice exhibit increased waking and slow-wave sleep episode numbers compared to in wild-type mice
• when this allele is inherited maternally, mice exhibit reduced duration of slow-wave sleep episodes with increased waking at the dark/light transition compared with wild-type mice
• when this allele is inherited maternally, mice exhibit less of an increase in the amount of paradoxical sleep and unchanged slow-wave sleep amounts during recovery after a 4-hour sleep deprivation compared with wild-type mice
• 6 of 8 mice exhibit intermittent bursts of 4 to 5 Hz spike-wave discharged lasting 5 to 12 seconds unlike wild-type mice (J:75622)
• spike-wave discharges occur at variable frequencies, typically every 2 to 3 minutes, without behavior change (J:75622)
• 2 mice exhibited electrographic seizures without behavior change (J:75622)
• when this allele is inherited maternally, Purkinje cell simple spike spontaneous firing rate is higher than in wild-type mice (J:95305)
• however, spontaneous complex spike firing rate is normal (J:95305)
• when this allele is inherited maternally, one-sided peak counts of simple spike autocorrelogram are higher than in wild-type mice (J:95305)
• when this allele is inherited maternally, the rhythm index is higher than in wild-type mice (J:95305)
• when this allele is inherited maternally, mice exhibit spike-wave discharges during wake and slow-wave sleep periods unlike wild-type mice (J:102546)

nervous system
• 6 of 8 mice exhibit intermittent bursts of 4 to 5 Hz spike-wave discharged lasting 5 to 12 seconds unlike wild-type mice (J:75622)
• spike-wave discharges occur at variable frequencies, typically every 2 to 3 minutes, without behavior change (J:75622)
• 2 mice exhibited electrographic seizures without behavior change (J:75622)
• when this allele is inherited maternally, Purkinje cell simple spike spontaneous firing rate is higher than in wild-type mice (J:95305)
• however, spontaneous complex spike firing rate is normal (J:95305)
• when this allele is inherited maternally, one-sided peak counts of simple spike autocorrelogram are higher than in wild-type mice (J:95305)
• when this allele is inherited maternally, the rhythm index is higher than in wild-type mice (J:95305)
• when this allele is inherited maternally, mice exhibit spike-wave discharges during wake and slow-wave sleep periods unlike wild-type mice (J:102546)
• at 2 and 5 weeks when the allele is inherited maternally
• however, brain morphology is otherwise normal
• when this allele is inherited maternally, mice exhibit spontaneous spindle-shaped local field potential oscillations throughout the vermis, uvula, and nodulus unlike wild-type mice
• when this allele is inherited maternally, mice exhibit highly rhythmic firing in 50% of Purkinje cells unlike in wild-type cells
• when this allele is inherited maternally, theta peak frequency is increased during paradoxical sleep compared to in wild-type mice
• when this allele is inherited maternally, mice exhibit no changes in delta waves during slow-wave sleep and theta waves during paradocical sleep while recovering from a 4-hour sleep deprivation unlike wild-type mice

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Angelman syndrome DOID:1932 OMIM:105830
J:75622


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory