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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 (10 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





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last database update
11/19/2024
MGI 6.24
The Jackson Laboratory