Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3atm1Alb mutation
(2 available);
any
Ube3a mutation
(68 available)
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mortality/aging
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• Background Sensitivity: substantial reduction in postnatal survival compared to mice on 129/B6 background, is seen, with death frequently observed during the first 48 hours postnatal (about 80%)
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growth/size/body
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• surviving mice are often growth-retarded
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behavior/neurological
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• mice demonstrate hindlimb clasping when lifted by tail
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• mice often exhibit stationary posture when lifted by tail
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• surviving mice are less active than littermates
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• Background Sensitivity: observed in all mice (5/5)
• mice with maternal deficiency are susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizure
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nervous system
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• Background Sensitivity: observed in all mice (5/5)
• mice with maternal deficiency are susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizure
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3atm1Alb mutation
(2 available);
any
Ube3a mutation
(68 available)
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mortality/aging
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• Background Sensitivity: slight reduction in survival prior to weaning compared to wild-type
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behavior/neurological
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• Background Sensitivity: observed in 20-30% of mice with maternal deficiency
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nervous system
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• Background Sensitivity: observed in 20-30% of mice with maternal deficiency
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reproductive system
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• oocyte numbers are~68% less in 3 week old homozygous females treated with PMSG and hCG
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• epididymal sperm counts are ~38% lower than in wild-type males
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• mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks
• some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent
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• prostate gland weight is lower in castrated mutants treated with testosterone, compared to control castrated males treated with testosterone
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• ovaries from 3-week old females treated with PMSG and hCG have fewer developing follicles
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• at 8-10 weeks of age, ovaries weigh ~30% less than wild-type ovaries; at later time points, difference is not observed
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• in 12 week old mice, testis weight is reduced by ~24% compared to wild-type
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• uterine wet weight is ~35% lower in mutant ovarectomized females after estradiol treament compared to matched controls
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• sperm has lower ability to penetrate oocytes in vitro compared to controls
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• ovaries from 3-week old females treated with PMSG and hCG are relatively deficient in luteinized cells
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• litters sired by homozygous males with wild-type females have ~34% fewer pups/litter
• litter size is ~48% lower in homozygous females compared to wild-type
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• total number of offspring sired by homozygous males with wild-type females is reduced compared to wild-type males
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endocrine/exocrine glands
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• mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks
• some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent
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• prostate gland weight is lower in castrated mutants treated with testosterone, compared to control castrated males treated with testosterone
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• ovaries from 3-week old females treated with PMSG and hCG have fewer developing follicles
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• at 8-10 weeks of age, ovaries weigh ~30% less than wild-type ovaries; at later time points, difference is not observed
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• in 12 week old mice, testis weight is reduced by ~24% compared to wild-type
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integument
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• mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks
• some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent
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cellular
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• oocyte numbers are~68% less in 3 week old homozygous females treated with PMSG and hCG
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• epididymal sperm counts are ~38% lower than in wild-type males
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Allelic Composition |
Ube3atm1Alb/Ube3a+
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Genetic Background |
involves: 129S7/SvEvBrd |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3atm1Alb mutation
(2 available);
any
Ube3a mutation
(68 available)
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behavior/neurological
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• Background Sensitivity: observed in 18% of mice with paternal deficiency and 85% (17/20) with maternal deficiency compared to mice on 129/B6 background
• mice with maternal deficiency are susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizures
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• occasionally observed in mice with maternal deficiency
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nervous system
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• Background Sensitivity: observed in 18% of mice with paternal deficiency and 85% (17/20) with maternal deficiency compared to mice on 129/B6 background
• mice with maternal deficiency are susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizures
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• occasionally observed in mice with maternal deficiency
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Allelic Composition |
Ube3atm1Alb/Ube3a+
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Genetic Background |
involves: 129S7/SvEvBrd * C57BL/6 |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3atm1Alb mutation
(2 available);
any
Ube3a mutation
(68 available)
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growth/size/body
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• 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
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• starting at 3 months when this allele is inherited maternally
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behavior/neurological
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• mice with maternal deficiency show deficits in context-dependent fear conditioning compared to littermates
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• reduced freezing when this allele is inherited maternally
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• 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
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• impaired performance in a marble burying test when this allele is inherited maternally
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• 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)
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• 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)
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• when this allele is inherited maternally
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• 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
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• occasionally observed in mice with maternal deficiency
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• longer abnormal EEG episodes in mice with maternal deficiency are accompanied by behavioral immobility which is characteristic of absence seizures
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nervous system
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• 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
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• occasionally observed in mice with maternal deficiency
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• longer abnormal EEG episodes in mice with maternal deficiency are accompanied by behavioral immobility which is characteristic of absence seizures
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• reduced in weight in mice at 18 days through 4 months of age with maternal deficiency
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• reduced in weight at 18 days through 4 months of age in mice with maternal deficiency
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• 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
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• 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
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• decaying LTP when this allele is inherited maternally
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• 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
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cellular
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• 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)
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Allelic Composition |
Ube3atm1Alb/Ube3a+
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Genetic Background |
involves: 129S7/SvEvBrd * C57BL/6J |
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ube3atm1Alb mutation
(2 available);
any
Ube3a mutation
(68 available)
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snhg14tm1Alb mutation
(0 available);
any
Snhg14 mutation
(1 available)
Ube3atm1Alb mutation
(2 available);
any
Ube3a mutation
(68 available)
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behavior/neurological
N |
• when the knock-out allele is inherited maternally, mice exhibit fully restored contextual conditioning behavior compared with mice heterozygous for the wild-type allele
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• when the knock-out allele is inherited maternally, mice exhibit a slight improvement in performance in a marble burying test compared with mice heterozygous for the wild-type allele
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• on an accelerating rotarod in later trials when the knock-out allele is inherited maternally
• however, performance improved in the first few trials and in the hanging wire and dowel tests
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• when the knock-out allele is inherited maternally, mice exhibit a trend towards improved activity levels compared with mice heterozygous for the wild-type allele
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growth/size/body
N |
• when the knock-out allele is inherited maternally, mice exhibit normal body weight unlike in mice heterozygous for the wild-type allele
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nervous system
N |
• when the knock-out allele is inherited maternally, mice exhibit restored long term potentiation compared with mice heterozygous for the wild-type allele
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