Phenotypes Associated with This Genotype

Genotype
MGI:5704111

• Allelic Composition: Ube3a^tm1Yelg/Ube3a⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPasCrl

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cellular

paternal imprinting ( J:222400 )

• this allele is maternally inherited and silenced in males by imprinting

behavior/neurological

abnormal emotion/affect behavior ( J:222400 )

• mice with a maternally inherited allele exhibit alterations in marble burying, showing a higher number of unburied marbles than controls

abnormal depression-related behavior ( J:222400 )

• mice inheriting the mutant allele from the mother exhibit alterations in the forced swim test, showing increased floating time compared to controls

impaired coordination ( J:222400 )

• mice inheriting the mutant allele from the mother exhibit alterations in rotarod performance, showing shorter latencies to fall off the rod

decreased locomotor activity ( J:222400 )

• mice with a maternally inherited allele exhibit alterations in open field explorations, showing shorter path lengths than controls

abnormal nest building behavior ( J:222400 )

• mice with a maternally inherited allele exhibit alterations in nest building; the percent of used nesting is lower in mutants than in controls indicating decreased nest building

audiogenic seizures ( J:222400 )

• mice with a maternally inherited allele exhibit alterations in audiogenic seizure threshold, showing a large increase in mice with seizures

• treatment of adults with either valproate or clonazepam for 5 days prevents audiogenic seizures

nervous system

audiogenic seizures ( J:222400 )

• mice with a maternally inherited allele exhibit alterations in audiogenic seizure threshold, showing a large increase in mice with seizures

• treatment of adults with either valproate or clonazepam for 5 days prevents audiogenic seizures

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Angelman syndrome		DOID:1932	OMIM:105830	J:222400