Strain Name:

B6.129S7-Ube3atm2Alb/J

Stock Number:

017765

Availability:

On Hold

Use Restrictions Apply, see Terms of Use
Register Interest
These E6-AP:YFP mutant mice carry a maternally imprinted Ube3a (ubiquitin protein ligase E3A) knockin fluorescent reporter and may be useful in imaging studies of Angelman syndrome.

Description

Strain Information

Former Names B6.129S7(Cg)-Ube3atm2.1Alb/J    (Changed: 22-MAY-12 )
B6;129S7-Ube3atm2Alb/J    (Changed: 18-JAN-12 )
Type Congenic; Mutant Strain; Targeted Mutation;
Additional information on Genetically Engineered and Mutant Mice.
Visit our online Nomenclature tutorial.
Additional information on Congenic nomenclature.
Specieslaboratory mouse
Generation+pN1
Generation Definitions
 
Donating InvestigatorDr. Arthur Beaudet,   Baylor College of Medicine

Description
The Ube3a (ubiquitin protein ligase E3A or E6-AP) knockin allele has YFP (Yellow Fluorescent Protein) fused to exon 10 of the Ube3a locus. Due to imprinting, E6-AP:YFP is preferentially expressed from the maternal allele at high levels in cortical and hippocampal pyramidal neurons and at lower levels in Purkinje cells and cerebellar neurons. YFP expression from the paternal allele is only faintly detected in these cells. E6-AP:YFP is biallelicly expressed in the glial cells lining the lateral ventricles. The fusion protein localizes both to the nucleus and to presynaptic and postsynaptic compartments in cultured hippocampal neurons. These E6-AP:YFP mutant mice carry a maternally imprinted Ube3a (ubiquitin protein ligase E3A) knockin fluorescent reporter and may be useful in imaging studies of Angelman syndrome.

Development
A cassette containing yellow fluorescent protein (YFP) and a loxP flanked neomycin resistance gene was fused to exon 10 of the targeted allele. 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. The resulting chimeric animals were backcrossed to C57BL/6 for at least 5 generations. Upon arrival at The Jackson Laboratory, the mice were crossed to C57BL/6J (Stock No. 000664) at least once to establish the colony.

Control Information

  Control
   Wild-type from the colony
 
  Considerations for Choosing Controls

Related Strains

Strains carrying other alleles of Ube3a
004477   129-Ube3atm1Alb/J
016590   B6.129S7-Ube3atm1Alb/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     (5 strains)

Phenotype

Phenotype Information

View Related Disease (OMIM) Terms

Related Disease (OMIM) Terms provided by MGI
- Potential model based on gene homology relationships. Phenotypic similarity to the human disease has not been tested.
Angelman Syndrome; AS   (UBE3A)
View Mammalian Phenotype Terms

Mammalian Phenotype Terms provided by MGI
      assigned by genotype

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

Ube3atm2Alb/Ube3a+

        involves: 129S7/SvEvBrd * C57BL/6
  • no phenotypic analysis
  • *normal* no phenotypic analysis   (MGI Ref ID J:130068)
View Research Applications

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

Developmental Biology Research
Imprinting

Neurobiology Research
Angelman syndrome
Fluorescent protein expression in neural tissue

Research Tools
Fluorescent Proteins

Genes & Alleles

Gene & Allele Information provided by MGI

 
Allele Symbol Ube3atm2Alb
Allele Name targeted mutation 2, Arthur L Beaudet
Allele Type Targeted (Null/Knockout, Reporter)
Common Name(s) Ube3aYFP;
Mutation Made ByDr. Arthur Beaudet,   Baylor College of Medicine
Strain of Origin129S7/SvEvBrd-Hprt
Site of ExpressionYFP is expressed from the maternal allele at high levels in cortical and hippocampal pyramidal neurons and at lower levels in Purkinje cells and cerebellar neurons.
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 Exon 10 was fused to YFP and a floxed neo cassette was inserted downstream of it to produce expression of YFP that recapitulates endogenous expression. [MGI Ref ID J:130068]

Genotyping

Genotyping Information

Genotyping Protocols

Ube3atm2.1Alb, Separated PCR


Helpful Links

Genotyping resources and troubleshooting

References

References provided by MGI

Selected Reference(s)

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]

Additional References

Ube3atm2Alb related

Meng L; Person RE; Beaudet AL. 2012. Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a. Hum Mol Genet 21(13):3001-12. [PubMed: 22493002]  [MGI Ref ID J:184609]

Health & husbandry

Health & Colony Maintenance Information

Colony Maintenance

Breeding & HusbandryWhile maintaining a live colony, these mice are bred as heterozygotes. Due to imprinting, YFP is expressed preferentially through the maternal allele. The donating investigator indicates the homozygotes do not breed well.

Pricing and Purchasing

Pricing, Supply Level & Notes, Controls


 

This strain is currently On Hold.
Register Interest

To request more information use the Customer Support Contact Form or call 1-800-422-6423 or 1-207-288-5845

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Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $2525.00

Standard Supply

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

Supply Notes

  • 8/20/14: This is is currently being restocked and is not available.
Pricing for International shipping destinations View USA Canada and Mexico Pricing

Cryopreserved

Cryopreserved Mice - Ready for Recovery

Price (US dollars $)
Cryorecovery* $3283.00

Standard Supply

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

Supply Notes

  • 8/20/14: This is is currently being restocked and is not available.
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.
 

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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.
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