About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ube3atm1Yelg
targeted mutation 1, Ype Elgersma
MGI:5704099
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Ube3atm1Yelg/Ube3a+ involves: 129P2/OlaHsd * 129S2/SvPasCrl MGI:5704111
cn2
Tg(CAG-cre)13Miya/0
Ube3atm1Yelg/Ube3a+
involves: 129P2/OlaHsd * 129S2/SvPasCrl * C57BL/6J MGI:5704116
cn3
Tg(CAG-cre/Esr1*)5Amc/0
Ube3atm1Yelg/Ube3a+
involves: 129P2/OlaHsd * 129S2/SvPasCrl * C57BL/6J MGI:5704117


Genotype
MGI:5704111
ht1
Allelic
Composition
Ube3atm1Yelg/Ube3a+
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPasCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3atm1Yelg mutation (0 available); any Ube3a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• this allele is maternally inherited and silenced in males by imprinting

behavior/neurological
• mice with a maternally inherited allele exhibit alterations in marble burying, showing a higher number of unburied marbles than controls
• mice inheriting the mutant allele from the mother exhibit alterations in the forced swim test, showing increased floating time compared to controls
• mice inheriting the mutant allele from the mother exhibit alterations in rotarod performance, showing shorter latencies to fall off the rod
• mice with a maternally inherited allele exhibit alterations in open field explorations, showing shorter path lengths than controls
• 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
• 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
• 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




Genotype
MGI:5704116
cn2
Allelic
Composition
Tg(CAG-cre)13Miya/0
Ube3atm1Yelg/Ube3a+
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPasCrl * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-cre)13Miya mutation (1 available)
Ube3atm1Yelg mutation (0 available); any Ube3a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice with a maternally inherited allele exhibit a full rescue of neurological and behavioral abnormalities (rotarod, marble burying, open field explorations, nest building, audiogenic seizure threshold, and forced swim test)




Genotype
MGI:5704117
cn3
Allelic
Composition
Tg(CAG-cre/Esr1*)5Amc/0
Ube3atm1Yelg/Ube3a+
Genetic
Background
involves: 129P2/OlaHsd * 129S2/SvPasCrl * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-cre/Esr1*)5Amc mutation (9 available)
Ube3atm1Yelg mutation (0 available); any Ube3a mutation (68 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice with a maternally inherited allele treated with tamoxifen at 3, 6, or 14 weeks of age show alterations in marble burying, indicating no rescue of this phenotype when gene expression is re-established at those times
• tamoxifen treatment of mice with a maternally inherited allele immediately after birth via administration to lactating dams does not rescue the deficits in marble burying
• mice treated with tamoxifen at 3, 6, or 14 weeks of age show alterations in the forced swim test, indicating no rescue of this phenotype
• tamoxifen treatment of mice with a maternally inherited allele immediately after birth via administration to lactating dams does not rescue the deficits in the forced swim test
• mice with a maternally inherited allele treated with tamoxifen at 14 weeks (adults) do not show any rescue of motor coordination deficit at 28 weeks of age
• however, mice with a maternally inherited allele treated with tamoxifen at 6 weeks (adolescents) show partial rescue of motor coordination deficit at 22 weeks of age and mice treated with tamoxifen at 3 weeks (juveniles) show full rescue of motor coordination deficit at 16 weeks of age
• tamoxifen treatment of mice with a maternally inherited allele immediately after birth via administration to lactating dams rescues fully the motor coordination deficit
• mice with a maternally inherited allele treated with tamoxifen at 3, 6, or 14 weeks of age show alterations in the open field explorations, indicating no rescue of this phenotype
• however, tamoxifen treatment of mice with a maternally inherited allele immediately after birth via administration to lactating dams results in improved performance in the open field
• mice with a maternally inherited allele treated with tamoxifen at 3, 6, or 14 weeks of age show alterations in nest building, indicating no rescue of this phenotype
• tamoxifen treatment of mice with a maternally inherited allele immediately after birth via administration to lactating dams does not rescue the deficits in nest building
• mice with a maternally inherited allele treated with tamoxifen at 3 weeks of age show increased audiogenic seizure threshold, indicating no rescue of this phenotype

nervous system
• mice with a maternally inherited allele treated with tamoxifen at 3 weeks of age show increased audiogenic seizure threshold, indicating no rescue of this phenotype
• mice with a maternally inherited allele not treated with tamoxifen exhibit abnormal Schaffer collateral-CA1 long term potentiation indicating a hippocampal plasticity deficit
• mice with a maternally inherited allele show full recovery of hippocampal LTP when treated with tamoxifen at 3 and 14 weeks of age





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
08/02/2024
MGI 6.24
The Jackson Laboratory