Strain Name:

129-Ube3atm1Alb/J

Stock Number:

004477

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Description

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Strain Information

Former Names B6;129-Ube3atm1Alb    (Changed: 15-DEC-04 )
Type Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
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Specieslaboratory mouse
 
Donating InvestigatorDr. Arthur Beaudet,   Baylor College of Medicine

Description
Mice that are heterozygous for the targeted mutation are viable and fertile. There is a reduced viability (9%) prior to weaning for homozygous offspring from heterozygous parents. Surviving homozygous mice display delayed growth and motor dysfunctions. No gene product (mRNA) is detected by Northern blot analysis in homozygous ES cells. In situ hybridization reveals no detectable expression in hippocampal neurons and Purkinje cells of heterozygotes with a maternal deficiency. Due to imprinting, with preferential expression of the maternal allele, heterozygous mice with a maternal deficiency display the phenotype while heterozygous mice with a paternal deficiency do not. Heterozygous mice with the maternal deficiency display reduced motor coordination, impaired long-term potentiation, and context-dependent learning abnormalities. Homozygous mice and heterozygous mice with a maternal deficiency have increased Purkinje cell cytoplasmic levels of TRP53, transformation related protein 53, and an increased susceptibility to tonic clonic seizures induced by handling. This mutant mouse strain represents a model that may be useful in studies of Angelman syndrome.

Development
A targeting vector containing neomycin resistance and herpes simplex virus thymidine kinase genes and a loxP site was used to disrupt a 3 kb sequence including exon 2. The construct was electroporated into 129S7 /SvEvBrd-Hprtb-m2 derived AB2.2 embryonic stem (ES) cells. Correctly targeted ES cells were injected into C57BL/6 blastocysts.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying   Ube3atm1Alb allele
016590   B6.129S7-Ube3atm1Alb/J
View Strains carrying   Ube3atm1Alb     (1 strain)

Strains carrying other alleles of Ube3a
017765   B6.129S7-Ube3atm2Alb/J
026278   FVB/N-Tg(tetO-Ube3a*1)1Svd/J
026279   FVB/N-Tg(tetO-Ube3a*2)884Svd/J
019730   FVB/NJ-Tg(Ube3a)1Mpan/J
View Strains carrying other alleles of Ube3a     (4 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Model with phenotypic similarity to human disease where etiologies involve orthologs. Human genes are associated with this disease. Orthologs of those genes appear in the mouse genotype(s).
Angelman Syndrome; AS
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

Ube3atm1Alb/Ube3a+

        involves: 129S7/SvEvBrd
  • behavior/neurological phenotype
  • audiogenic seizures
    • observed in 18% of mice with paternal deficiency and 85% (17/20) with maternal deficiency compared to mice on 129/B6 background   (MGI Ref ID J:50811)
    • mice with maternal deficiency are susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizures   (MGI Ref ID J:50811)
  • tonic-clonic seizures
    • occasionally observed in mice with maternal deficiency   (MGI Ref ID J:50811)
  • nervous system phenotype
  • audiogenic seizures
    • observed in 18% of mice with paternal deficiency and 85% (17/20) with maternal deficiency compared to mice on 129/B6 background   (MGI Ref ID J:50811)
    • mice with maternal deficiency are susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizures   (MGI Ref ID J:50811)
  • tonic-clonic seizures
    • occasionally observed in mice with maternal deficiency   (MGI Ref ID J:50811)

Ube3atm1Alb/Ube3atm1Alb

        involves: 129S7/SvEvBrd
  • mortality/aging
  • partial postnatal lethality
    • 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%)   (MGI Ref ID J:50811)
  • growth/size/body phenotype
  • postnatal growth retardation
    • surviving mice are often growth-retarded   (MGI Ref ID J:50811)
  • behavior/neurological phenotype
  • abnormal posture
    • mice often exhibit stationary posture when lifted by tail   (MGI Ref ID J:50811)
  • audiogenic seizures
    • observed in all mice (5/5)   (MGI Ref ID J:50811)
    • mice with maternal deficiency are susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizure   (MGI Ref ID J:50811)
  • bradykinesia
    • surviving mice are less active than littermates   (MGI Ref ID J:50811)
  • limb grasping
    • mice demonstrate hindlimb clasping when lifted by tail   (MGI Ref ID J:50811)
  • nervous system phenotype
  • audiogenic seizures
    • observed in all mice (5/5)   (MGI Ref ID J:50811)
    • mice with maternal deficiency are susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizure   (MGI Ref ID J:50811)

The following phenotype information is associated with a similar, but not exact match to this JAX® Mice strain.

Ube3atm1Alb/Ube3a+

        involves: 129S7/SvEvBrd * C57BL/6
  • growth/size/body phenotype
  • decreased body weight
    • 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   (MGI Ref ID J:50811)
  • increased body weight
    • starting at 3 months when this allele is inherited maternally   (MGI Ref ID J:207499)
  • behavior/neurological phenotype
  • abnormal contextual conditioning behavior
    • mice with maternal deficiency show deficits in context-dependent fear conditioning compared to littermates   (MGI Ref ID J:50811)
    • impaired contextual conditioning behavior
      • reduced freezing when this allele is inherited maternally   (MGI Ref ID J:207499)
  • abnormal emotion/affect behavior
    • impaired performance in a marble burying test when this allele is inherited maternally   (MGI Ref ID J:207499)
  • abnormal gait
    • 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)   (MGI Ref ID J:50811)
  • abnormal motor learning
    • 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   (MGI Ref ID J:50811)
  • absence seizures
    • longer abnormal EEG episodes in mice with maternal deficiency are accompanied by behavioral immobility which is characteristic of absence seizures   (MGI Ref ID J:50811)
  • audiogenic seizures
    • observed in 20-30% of mice with maternal deficiency on hybrid background   (MGI Ref ID J:50811)
    • mice with maternal deficiency are substantially more susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizures   (MGI Ref ID J:50811)
  • hypoactivity
    • when this allele is inherited maternally   (MGI Ref ID J:207499)
  • impaired coordination
    • mice with maternal deficiency cannot stay on rotating rod as long as wild-type (37.9 sec vs 72.3 sec)   (MGI Ref ID J:50811)
    • on an accelerating rotarod, wire hang test and dowel test when this allele is inherited maternally   (MGI Ref ID J:207499)
  • tonic-clonic seizures
    • occasionally observed in mice with maternal deficiency   (MGI Ref ID J:50811)
  • nervous system phenotype
  • abnormal cerebral cortex morphology
    • reduced in weight in mice at 18 days through 4 months of age with maternal deficiency   (MGI Ref ID J:50811)
  • abnormal dendrite morphology
    • 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)   (MGI Ref ID J:130068)
    • dendrites are thinner than in wild-type mice   (MGI Ref ID J:130068)
    • pyramidal dendrites exhibit varicosities along the secondary dendritic shaft unlike in wild-type mice   (MGI Ref ID J:130068)
  • abnormal long term potentiation
    • decaying LTP when this allele is inherited maternally   (MGI Ref ID J:207499)
    • reduced long term potentiation
      • 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   (MGI Ref ID J:50811)
  • abnormal nervous system electrophysiology   (MGI Ref ID J:50811)
    • abnormal brain wave pattern
      • EEG activity is abnormal with abundant bilateral 3 sec spike activity mixed with polyspike and slow wave discharges   (MGI Ref ID J:50811)
      • longer abnormal EEG episodes in mice with maternal deficiency are accompanied by behavioral immobility which is characteristic of absence seizures   (MGI Ref ID J:50811)
  • absence seizures
    • longer abnormal EEG episodes in mice with maternal deficiency are accompanied by behavioral immobility which is characteristic of absence seizures   (MGI Ref ID J:50811)
  • audiogenic seizures
    • observed in 20-30% of mice with maternal deficiency on hybrid background   (MGI Ref ID J:50811)
    • mice with maternal deficiency are substantially more susceptible to audiogenic seizures characterized by running and leaping followed by tonic clonic seizures   (MGI Ref ID J:50811)
  • small cerebellum
    • reduced in weight at 18 days through 4 months of age in mice with maternal deficiency   (MGI Ref ID J:50811)
  • tonic-clonic seizures
    • occasionally observed in mice with maternal deficiency   (MGI Ref ID J:50811)
  • cellular phenotype
  • paternal imprinting
    • inheritance of the maternal Ube3atm1Alb allele results in much more severe phenotypic effects compared to inheritance of the paternal allele   (MGI Ref ID J:50811)
    • this allele is maternally inherited and silenced in males by imprinting   (MGI Ref ID J:130068)

Ube3atm1Alb/Ube3a+

        involves: 129S7/SvEvBrd * C57BL/6J
  • homeostasis/metabolism phenotype
  • abnormal adrenaline level
    • mice with maternal deficiency (inheriting the null allele from the mother) exhibit increased epinephrine levels in the midbrain   (MGI Ref ID J:190050)
  • increased dopamine level
    • mice with maternal deficiency exhibit increased dopamine levels in the striatum and cortex   (MGI Ref ID J:190050)
    • DOPAC levels are increased in the striatum and midbrain   (MGI Ref ID J:190050)
  • increased serotonin level
    • mice with maternal deficiency exhibit increased 5HT (serotonin) levels in the frontal cortex and striatum   (MGI Ref ID J:190050)
  • nervous system phenotype
  • increased dopamine level
    • mice with maternal deficiency exhibit increased dopamine levels in the striatum and cortex   (MGI Ref ID J:190050)
    • DOPAC levels are increased in the striatum and midbrain   (MGI Ref ID J:190050)

Ube3atm1Alb/Ube3atm1Alb

        involves: 129S7/SvEvBrd * C57BL/6
  • mortality/aging
  • postnatal lethality
    • slight reduction in survival prior to weaning compared to wild-type   (MGI Ref ID J:50811)
  • behavior/neurological phenotype
  • audiogenic seizures
    • observed in 20-30% of mice with maternal deficiency   (MGI Ref ID J:50811)
  • nervous system phenotype
  • audiogenic seizures
    • observed in 20-30% of mice with maternal deficiency   (MGI Ref ID J:50811)
  • reproductive system phenotype
  • abnormal mammary gland growth during pregnancy
    • mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks   (MGI Ref ID J:99980)
    • some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent   (MGI Ref ID J:99980)
  • abnormal ovarian folliculogenesis
    • ovaries from 3-week old females treated with PMSG and hCG have fewer developing follicles   (MGI Ref ID J:99980)
  • decreased litter size
    • litters sired by homozygous males with wild-type females have ~34% fewer pups/litter   (MGI Ref ID J:99980)
    • litter size is ~48% lower in homozygous females compared to wild-type   (MGI Ref ID J:99980)
  • decreased oocyte number
    • oocyte numbers are~68% less in 3 week old homozygous females treated with PMSG and hCG   (MGI Ref ID J:99980)
  • decreased ovary weight
    • at 8-10 weeks of age, ovaries weigh ~30% less than wild-type ovaries; at later time points, difference is not observed   (MGI Ref ID J:99980)
  • decreased prostate gland weight
    • prostate gland weight is lower in castrated mutants treated with testosterone, compared to control castrated males treated with testosterone   (MGI Ref ID J:99980)
  • decreased testis weight
    • in 12 week old mice, testis weight is reduced by ~24% compared to wild-type   (MGI Ref ID J:99980)
  • decreased uterus weight
    • uterine wet weight is ~35% lower in mutant ovarectomized females after estradiol treament compared to matched controls   (MGI Ref ID J:99980)
  • impaired luteinization
    • ovaries from 3-week old females treated with PMSG and hCG are relatively deficient in luteinized cells   (MGI Ref ID J:99980)
  • impaired sperm capacitation
    • sperm has lower ability to penetrate oocytes in vitro compared to controls   (MGI Ref ID J:99980)
  • oligozoospermia
    • epididymal sperm counts are ~38% lower than in wild-type males   (MGI Ref ID J:99980)
  • reduced female fertility
    • female are subfertile   (MGI Ref ID J:99980)
  • reduced male fertility
    • total number of offspring sired by homozygous males with wild-type females is reduced compared to wild-type males   (MGI Ref ID J:99980)
  • endocrine/exocrine gland phenotype
  • abnormal mammary gland growth during pregnancy
    • mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks   (MGI Ref ID J:99980)
    • some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent   (MGI Ref ID J:99980)
  • abnormal ovarian folliculogenesis
    • ovaries from 3-week old females treated with PMSG and hCG have fewer developing follicles   (MGI Ref ID J:99980)
  • decreased ovary weight
    • at 8-10 weeks of age, ovaries weigh ~30% less than wild-type ovaries; at later time points, difference is not observed   (MGI Ref ID J:99980)
  • decreased prostate gland weight
    • prostate gland weight is lower in castrated mutants treated with testosterone, compared to control castrated males treated with testosterone   (MGI Ref ID J:99980)
  • decreased testis weight
    • in 12 week old mice, testis weight is reduced by ~24% compared to wild-type   (MGI Ref ID J:99980)
  • integument phenotype
  • abnormal mammary gland growth during pregnancy
    • mammary gland development in ovarectomized females treated with progesterone and estradiol to mimic pregnance was comparable to wild-type at 12 and 14 weeks   (MGI Ref ID J:99980)
    • some females show increased ductal branching and lobuloalveolar development compared to wild-type controls, but penetrance of this phenotype is not consistent   (MGI Ref ID J:99980)
View Research Applications

Research Applications
This mouse can be used to support research in many areas including:

Ube3atm1Alb related

Neurobiology Research
Angelman syndrome

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Ube3atm1Alb
Allele Name targeted mutation 1, Arthur L Beaudet
Allele Type Targeted (Null/Knockout)
Common Name(s) E6-AP-; E6AP-; Ube3A KO;
Mutation Made ByDr. Arthur Beaudet,   Baylor College of Medicine
Strain of Origin129S7/SvEvBrd-Hprt
ES Cell Line NameAB2.2
ES Cell Line Strain129S7/SvEvBrd-Hprt
Gene Symbol and Name Ube3a, ubiquitin protein ligase E3A
Chromosome 7
Gene Common Name(s) 5830462N02Rik; A130086L21Rik; ANCR; AS; E6-AP; E6-AP ubiquitin protein ligase; EPVE6AP; HPVE6A; RIKEN cDNA 5830462N02 gene; RIKEN cDNA A130086L21 gene;
Molecular Note A 3kb genomic region including exon 2 was replaced with a neo-loxP-hprt cassette via homologous recombination, resulting in deletion of 100 N-terminal amino acids in the encoded protein and a frameshift inactivating all putative protein isoforms. Homozygous mutant animals were identified by Southern blot and PCR genotype analysis. [MGI Ref ID J:50811]

Genotyping

Genotyping Information

Genotyping Protocols

Ube3atm1Albalternate1,

Separated MCA


Ube3atm1Alb, Separated PCR
Ube3atm1Albalternate1, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

Jiang YH; Armstrong D; Albrecht U; Atkins CM; Noebels JL; Eichele G ; Sweatt JD ; Beaudet AL. 1998. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation [see comments] Neuron 21(4):799-811. [PubMed: 9808466]  [MGI Ref ID J:50811]

Additional References

Ube3atm1Alb related

Cao C; Rioult-Pedotti MS; Migani P; Yu CJ; Tiwari R; Parang K; Spaller MR; Goebel DJ; Marshall J. 2013. Impairment of TrkB-PSD-95 signaling in Angelman syndrome. PLoS Biol 11(2):e1001478. [PubMed: 23424281]  [MGI Ref ID J:194528]

Condon KH; Ho J; Robinson CG; Hanus C; Ehlers MD. 2013. The Angelman syndrome protein Ube3a/E6AP is required for Golgi acidification and surface protein sialylation. J Neurosci 33(9):3799-814. [PubMed: 23447592]  [MGI Ref ID J:196065]

Cummings CJ; Reinstein E; Sun Y; Antalffy B; Jiang Y; Ciechanover A; Orr HT; Beaudet AL; Zoghbi HY. 1999. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron 24(4):879-92. [PubMed: 10624951]  [MGI Ref ID J:59181]

Daily JL; Nash K; Jinwal U; Golde T; Rogers J; Peters MM; Burdine RD; Dickey C; Banko JL; Weeber EJ. 2011. Adeno-associated virus-mediated rescue of the cognitive defects in a mouse model for Angelman syndrome. PLoS One 6(12):e27221. [PubMed: 22174738]  [MGI Ref ID J:182260]

Dindot SV; Antalffy BA; Bhattacharjee MB; Beaudet AL. 2008. The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology. Hum Mol Genet 17(1):111-8. [PubMed: 17940072]  [MGI Ref ID J:130068]

Farook MF; DeCuypere M; Hyland K; Takumi T; LeDoux MS; Reiter LT. 2012. Altered serotonin, dopamine and norepinepherine levels in 15q duplication and Angelman syndrome mouse models. PLoS One 7(8):e43030. [PubMed: 22916201]  [MGI Ref ID J:190050]

Godavarthi SK; Dey P; Maheshwari M; Ranjan Jana N. 2012. Defective glucocorticoid hormone receptor signaling leads to increased stress and anxiety in a mouse model of Angelman syndrome. Hum Mol Genet 21(8):1824-34. [PubMed: 22215440]  [MGI Ref ID J:181890]

Godavarthi SK; Sharma A; Jana NR. 2014. Reversal of reduced parvalbumin neurons in hippocampus and amygdala of Angelman syndrome model mice by chronic treatment of fluoxetine. J Neurochem 130(3):444-54. [PubMed: 24678582]  [MGI Ref ID J:214690]

Greer PL; Hanayama R; Bloodgood BL; Mardinly AR; Lipton DM; Flavell SW; Kim TK; Griffith EC; Waldon Z; Maehr R; Ploegh HL; Chowdhury S; Worley PF; Steen J; Greenberg ME. 2010. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 140(5):704-16. [PubMed: 20211139]  [MGI Ref ID J:167955]

Gustin RM; Bichell TJ; Bubser M; Daily J; Filonova I; Mrelashvili D; Deutch AY; Colbran RJ; Weeber EJ; Haas KF. 2010. Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome. Neurobiol Dis 39(3):283-91. [PubMed: 20423730]  [MGI Ref ID J:164740]

Heck DH; Zhao Y; Roy S; LeDoux MS; Reiter LT. 2008. Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors. Hum Mol Genet 17(14):2181-9. [PubMed: 18413322]  [MGI Ref ID J:136889]

Huang HS; Burns AJ; Nonneman RJ; Baker LK; Riddick NV; Nikolova VD; Riday TT; Yashiro K; Philpot BD; Moy SS. 2013. Behavioral deficits in an Angelman syndrome model: effects of genetic background and age. Behav Brain Res 243:79-90. [PubMed: 23295389]  [MGI Ref ID J:197160]

Judson MC; Sosa-Pagan JO; Del Cid WA; Han JE; Philpot BD. 2014. Allelic specificity of Ube3a expression in the mouse brain during postnatal development. J Comp Neurol 522(8):1874-96. [PubMed: 24254964]  [MGI Ref ID J:214710]

Kaphzan H; Buffington SA; Jung JI; Rasband MN; Klann E. 2011. Alterations in intrinsic membrane properties and the axon initial segment in a mouse model of angelman syndrome. J Neurosci 31(48):17637-48. [PubMed: 22131424]  [MGI Ref ID J:178140]

Kaphzan H; Buffington SA; Ramaraj AB; Lingrel JB; Rasband MN; Santini E; Klann E. 2013. Genetic reduction of the alpha1 subunit of Na/K-ATPase corrects multiple hippocampal phenotypes in Angelman syndrome. Cell Rep 4(3):405-12. [PubMed: 23911285]  [MGI Ref ID J:201904]

Khan OY; Fu G; Ismail A; Srinivasan S; Cao X; Tu Y; Lu S; Nawaz Z. 2006. Multifunction steroid receptor coactivator, E6-associated protein, is involved in development of the prostate gland. Mol Endocrinol 20(3):544-59. [PubMed: 16254014]  [MGI Ref ID J:105872]

Kim S; Chahrour M; Ben-Shachar S; Lim J. 2013. Ube3a/E6AP is involved in a subset of MeCP2 functions. Biochem Biophys Res Commun 437(1):67-73. [PubMed: 23791832]  [MGI Ref ID J:204417]

Louria-Hayon I; Alsheich-Bartok O; Levav-Cohen Y; Silberman I; Berger M; Grossman T; Matentzoglu K; Jiang YH; Muller S; Scheffner M; Haupt S; Haupt Y. 2009. E6AP promotes the degradation of the PML tumor suppressor. Cell Death Differ 16(8):1156-66. [PubMed: 19325566]  [MGI Ref ID J:164182]

Maheshwari M; Samanta A; Godavarthi SK; Mukherjee R; Jana NR. 2012. Dysfunction of the ubiquitin ligase Ube3a may be associated with synaptic pathophysiology in a mouse model of Huntington disease. J Biol Chem 287(35):29949-57. [PubMed: 22787151]  [MGI Ref ID J:190413]

Maheshwari M; Shekhar S; Singh BK; Jamal I; Vatsa N; Kumar V; Sharma A; Jana NR. 2014. Deficiency of Ube3a in Huntington's disease mice brain increases aggregate load and accelerates disease pathology. Hum Mol Genet 23(23):6235-45. [PubMed: 25027318]  [MGI Ref ID J:215621]

Margolis SS; Salogiannis J; Lipton DM; Mandel-Brehm C; Wills ZP; Mardinly AR; Hu L; Greer PL; Bikoff JB; Ho HY; Soskis MJ; Sahin M; Greenberg ME. 2010. EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell 143(3):442-55. [PubMed: 21029865]  [MGI Ref ID J:167914]

Meng L; Person RE; Huang W; Zhu PJ; Costa-Mattioli M; Beaudet AL. 2013. Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. PLoS Genet 9(12):e1004039. [PubMed: 24385930]  [MGI Ref ID J:207499]

Mulherkar SA; Jana NR. 2010. Loss of dopaminergic neurons and resulting behavioural deficits in mouse model of Angelman syndrome. Neurobiol Dis 40(3):586-92. [PubMed: 20696245]  [MGI Ref ID J:167267]

Peters J; Beechey C. 2004. Identification and characterisation of imprinted genes in the mouse. Brief Funct Genomic Proteomic 2(4):320-33. [PubMed: 15163367]  [MGI Ref ID J:187438]

Pignatelli M; Piccinin S; Molinaro G; Di Menna L; Riozzi B; Cannella M; Motolese M; Vetere G; Catania MV; Battaglia G; Nicoletti F; Nistico R; Bruno V. 2014. Changes in mGlu5 receptor-dependent synaptic plasticity and coupling to homer proteins in the hippocampus of Ube3A hemizygous mice modeling angelman syndrome. J Neurosci 34(13):4558-66. [PubMed: 24672001]  [MGI Ref ID J:210453]

Reiter LT; Seagroves TN; Bowers M; Bier E. 2006. Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase. Hum Mol Genet 15(18):2825-35. [PubMed: 16905559]  [MGI Ref ID J:115019]

Riday TT; Dankoski EC; Krouse MC; Fish EW; Walsh PL; Han JE; Hodge CW; Wightman RM; Philpot BD; Malanga CJ. 2012. Pathway-specific dopaminergic deficits in a mouse model of Angelman syndrome. J Clin Invest 122(12):4544-54. [PubMed: 23143301]  [MGI Ref ID J:193982]

Sato M; Stryker MP. 2010. Genomic imprinting of experience-dependent cortical plasticity by the ubiquitin ligase gene Ube3a. Proc Natl Acad Sci U S A 107(12):5611-6. [PubMed: 20212164]  [MGI Ref ID J:158684]

Shai A; Nguyen ML; Wagstaff J; Jiang YH; Lambert PF. 2007. HPV16 E6 confers p53-dependent and p53-independent phenotypes in the epidermis of mice deficient for E6AP. Oncogene 26(23):3321-8. [PubMed: 17130828]  [MGI Ref ID J:122885]

Shai A; Pitot HC; Lambert PF. 2010. E6-associated protein is required for human papillomavirus type 16 E6 to cause cervical cancer in mice. Cancer Res 70(12):5064-73. [PubMed: 20530688]  [MGI Ref ID J:160894]

Smith CL; DeVera DG; Lamb DJ; Nawaz Z; Jiang YH; Beaudet AL; O'Malley BW. 2002. Genetic ablation of the steroid receptor coactivator-ubiquitin ligase, E6-AP, results in tissue-selective steroid hormone resistance and defects in reproduction. Mol Cell Biol 22(2):525-35. [PubMed: 11756548]  [MGI Ref ID J:99980]

Steinkellner T; Yang JW; Montgomery TR; Chen WQ; Winkler MT; Sucic S; Lubec G; Freissmuth M; Elgersma Y; Sitte HH; Kudlacek O. 2012. Ca(2+)/calmodulin-dependent protein kinase IIalpha (alphaCaMKII) controls the activity of the dopamine transporter: implications for Angelman syndrome. J Biol Chem 287(35):29627-35. [PubMed: 22778257]  [MGI Ref ID J:190420]

Su H; Fan W; Coskun PE; Vesa J; Gold JA; Jiang YH; Potluri P; Procaccio V; Acab A; Weiss JH; Wallace DC; Kimonis VE. 2011. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett 487(2):129-33. [PubMed: 19563863]  [MGI Ref ID J:168287]

Wallace ML; Burette AC; Weinberg RJ; Philpot BD. 2012. Maternal loss of Ube3a produces an excitatory/inhibitory imbalance through neuron type-specific synaptic defects. Neuron 74(5):793-800. [PubMed: 22681684]  [MGI Ref ID J:188358]

Wolyniec K; Levav-Cohen Y; Jiang YH; Haupt S; Haupt Y. 2013. The E6AP E3 ubiquitin ligase regulates the cellular response to oxidative stress. Oncogene 32(30):3510-9. [PubMed: 22986523]  [MGI Ref ID J:199977]

Wolyniec K; Shortt J; de Stanchina E; Levav-Cohen Y; Alsheich-Bartok O; Louria-Hayon I; Corneille V; Kumar B; Woods SJ; Opat S; Johnstone RW; Scott CL; Segal D; Pandolfi PP; Fox S; Strasser A; Jiang YH; Lowe SW; Haupt S; Haupt Y. 2012. E6AP ubiquitin ligase regulates PML-induced senescence in Myc-driven lymphomagenesis. Blood 120(4):822-32. [PubMed: 22689861]  [MGI Ref ID J:189091]

Yashiro K; Riday TT; Condon KH; Roberts AC; Bernardo DR; Prakash R; Weinberg RJ; Ehlers MD; Philpot BD. 2009. Ube3a is required for experience-dependent maturation of the neocortex. Nat Neurosci 12(6):777-83. [PubMed: 19430469]  [MGI Ref ID J:161264]

Zaaroor-Regev D; de Bie P; Scheffner M; Noy T; Shemer R; Heled M; Stein I; Pikarsky E; Ciechanover A. 2010. Regulation of the polycomb protein Ring1B by self-ubiquitination or by E6-AP may have implications to the pathogenesis of Angelman syndrome. Proc Natl Acad Sci U S A 107(15):6788-93. [PubMed: 20351251]  [MGI Ref ID J:159302]

van Woerden GM; Harris KD; Hojjati MR; Gustin RM; Qiu S; de Avila Freire R; Jiang YH; Elgersma Y; Weeber EJ. 2007. Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation. Nat Neurosci 10(3):280-2. [PubMed: 17259980]  [MGI Ref ID J:120721]

Health & husbandry

The genotypes of the animals provided may not reflect those discussed in the strain description or the mating scheme utilized by The Jackson Laboratory prior to cryopreservation. Please inquire for possible genotypes for this specific strain.

Health & Colony Maintenance Information

Animal Health Reports

Production of mice from cryopreserved embryos or sperm occurs in a maximum barrier room, G200.

Colony Maintenance

Breeding & HusbandryThe resulting chimeric animals were crossed to 129 mice. The strain is maintained as a heterozygote due to variable homozygous lethality. Expected coat color is: Agouti.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


Pricing for USA, Canada and Mexico shipping destinations View International Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2525.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Frozen Products

Price (US dollars $)
Frozen Embryo $1650.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00
Animals Provided

At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.

Frozen Products

Price (US dollars $)
Frozen Embryo $2145.00

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Supply Notes

  • Cryopreserved Embryos
    Available to most shipping destinations1
    This strain is also available as cryopreserved embryos2. Orders for cryopreserved embryos may be placed with our Customer Service Department. Experienced technicians at The Jackson Laboratory have recovered frozen embryos of this strain successfully. We will provide you enough embryos to perform two embryo transfers. The Jackson Laboratory does not guarantee successful recovery at your facility. For complete information on purchasing embryos, please visit our Cryopreserved Embryos web page.

    1 Shipments cannot be made to Australia due to Australian government import restrictions.
    2 Embryos for most strains are cryopreserved at the two cell stage while some strains are cryopreserved at the eight cell stage. If this information is important to you, please contact Customer Service.
  • Cryorecovery - Standard.
    Progeny testing is not required.

    The average number of mice provided from recovery of our cryopreserved strains is 10. The total number of animals provided, their gender and genotype will vary. We will fulfill your order by providing at least two pair of mice, at least one animal of each pair carrying the mutation of interest. Please inquire if larger numbers of animals with specific genotype and genders are needed. Animals typically ship between 10 and 14 weeks from the date of your order. If a second cryorecovery is needed in order to provide the minimum number of animals, animals will ship within 25 weeks. IMPORTANT NOTE: The genotypes of animals provided may not reflect the mating scheme utilized by The Jackson Laboratory prior to cryopreservation, or that discussed in the strain description. Please inquire about possible genotypes which will be recovered for this specific strain. The Jackson Laboratory cannot guarantee the reproductive success of mice shipped to your facility. If the mice are lost after the first three days (post-arrival) or do not produce progeny at your facility, a new order and fee will be necessary.

    Cryorecovery to establish a Dedicated Supply for greater quantities of mice. Mice recovered can be used to establish a dedicated colony to contractually supply you mice according to your requirements. Price by quotation. For more information on Dedicated Supply, please contact JAX® Services, Tel: 1-800-422-6423 (from U.S.A., Canada or Puerto Rico only) or 1-207-288-5845 (from any location).

View USA Canada and Mexico Pricing View International Pricing

Standard Supply

Cryopreserved. Ready for recovery. Please refer to pricing and supply notes on the strain data sheet for further information.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls
  Control Pricing Information for Genetically Engineered Mutant Strains.
 

Payment Terms and Conditions

Terms are granted by individual review and stated on the customer invoice(s) and account statement. These transactions are payable in U.S. currency within the granted terms. Payment for services, products, shipping containers, and shipping costs that are rendered are expected within the payment terms indicated on the invoice or stated by contract. Invoices and account balances in arrears of stated terms may result in The Jackson Laboratory pursuing collection activities including but not limited to outside agencies and court filings.


See Terms of Use tab for General Terms and Conditions


The Jackson Laboratory's Genotype Promise

The Jackson Laboratory has rigorous genetic quality control and mutant gene genotyping programs to ensure the genetic background of JAX® Mice strains as well as the genotypes of strains with identified molecular mutations. JAX® Mice strains are only made available to researchers after meeting our standards. However, the phenotype of each strain may not be fully characterized and/or captured in the strain data sheets. Therefore, we cannot guarantee a strain's phenotype will meet all expectations. To ensure that JAX® Mice will meet the needs of individual research projects or when requesting a strain that is new to your research, we suggest ordering and performing tests on a small number of mice to determine suitability for your particular project.
Ordering Information
JAX® Mice
Surgical and Preconditioning Services
JAX® Services
Customer Services and Support
Tel: 1-800-422-6423 or 1-207-288-5845
Fax: 1-207-288-6150
Technical Support Email Form

Terms of Use

Terms of Use


General Terms and Conditions


For Licensing and Use Restrictions view the link(s) below:
- Use of MICE by companies or for-profit entities requires a license prior to shipping.

Contact information

General inquiries regarding Terms of Use

Contracts Administration

phone:207-288-6470

JAX® Mice, Products & Services Conditions of Use

"MICE" means mouse strains, their progeny derived by inbreeding or crossbreeding, unmodified derivatives from mouse strains or their progeny supplied by The Jackson Laboratory ("JACKSON"). "PRODUCTS" means biological materials supplied by JACKSON, and their derivatives. "RECIPIENT" means each recipient of MICE, PRODUCTS, or services provided by JACKSON including each institution, its employees and other researchers under its control. MICE or PRODUCTS shall not be: (i) used for any purpose other than the internal research, (ii) sold or otherwise provided to any third party for any use, or (iii) provided to any agent or other third party to provide breeding or other services. Acceptance of MICE or PRODUCTS from JACKSON shall be deemed as agreement by RECIPIENT to these conditions, and departure from these conditions requires JACKSON's prior written authorization.

No Warranty

MICE, PRODUCTS AND SERVICES ARE PROVIDED “AS IS”. JACKSON EXTENDS NO WARRANTIES OF ANY KIND, EITHER EXPRESS, IMPLIED, OR STATUTORY, WITH RESPECT TO MICE, PRODUCTS OR SERVICES, INCLUDING ANY IMPLIED WARRANTY OF MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE, OR ANY WARRANTY OF NON-INFRINGEMENT OF ANY PATENT, TRADEMARK, OR OTHER INTELLECTUAL PROPERTY RIGHTS.

In case of dissatisfaction for a valid reason and claimed in writing by a purchaser within ninety (90) days of receipt of mice, products or services, JACKSON will, at its option, provide credit or replacement for the mice or product received or the services provided.

No Liability

In no event shall JACKSON, its trustees, directors, officers, employees, and affiliates be liable for any causes of action or damages, including any direct, indirect, special, or consequential damages, arising out of the provision of MICE, PRODUCTS or services, including economic damage or injury to property and lost profits, and including any damage arising from acts or negligence on the part of JACKSON, its agents or employees. Unless prohibited by law, in purchasing or receiving MICE, PRODUCTS or services from JACKSON, purchaser or recipient, or any party claiming by or through them, expressly releases and discharges JACKSON from all such causes of action or damages, and further agrees to defend and indemnify JACKSON from any costs or damages arising out of any third party claims.

MICE and PRODUCTS are to be used in a safe manner and in accordance with all applicable governmental rules and regulations.

The foregoing represents the General Terms and Conditions applicable to JACKSON’s MICE, PRODUCTS or services. In addition, special terms and conditions of sale of certain MICE, PRODUCTS or services may be set forth separately in JACKSON web pages, catalogs, price lists, contracts, and/or other documents, and these special terms and conditions shall also govern the sale of these MICE, PRODUCTS and services by JACKSON, and by its licensees and distributors.

Acceptance of delivery of MICE, PRODUCTS or services shall be deemed agreement to these terms and conditions. No purchase order or other document transmitted by purchaser or recipient that may modify the terms and conditions hereof, shall be in any way binding on JACKSON, and instead the terms and conditions set forth herein, including any special terms and conditions set forth separately, shall govern the sale of MICE, PRODUCTS or services by JACKSON.


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