|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.|
Former Names B6.129S7(Cg)-Ube3atm2.1Alb/J (Changed: 22-MAY-12 ) B6;129S7-Ube3atm2Alb/J (Changed: 18-JAN-12 ) Type Congenic; Targeted Mutation; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Additional information on Congenic nomenclature. Species laboratory mouse Generation +pN1
Donating Investigator Dr. Arthur Beaudet, Baylor College of Medicine
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.
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.
|Wild-type from the colony|
|Considerations for Choosing Controls|
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/JView Strains carrying other alleles of Ube3a (5 strains)
View Related Disease (OMIM) TermsRelated 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 TermsMammalian Phenotype Terms provided by MGIassigned 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
|Allele Name||targeted mutation 2, Arthur L Beaudet|
|Allele Type||Targeted (Null/Knockout, Reporter)|
|Mutation Made By||Dr. Arthur Beaudet, Baylor College of Medicine|
|Strain of Origin||129S7/SvEvBrd-Hprt|
|Site of Expression||YFP 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|
|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]|
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]
Breeding & Husbandry While 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.
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View All Strains Awaiting Transfer from the Donor, In Progress and On Hold
|Wild-type from the colony|
|Considerations for Choosing Controls|
|Control Pricing Information for Genetically Engineered Mutant Strains.|
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