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Ube3atm1Jwf
Targeted Allele Detail
Nomenclature
Symbol: Ube3atm1Jwf
Name: ubiquitin protein ligase E3A; targeted mutation 1, Joseph Wagstaff
MGI ID: MGI:2182454
Synonyms: Ube3a (m-)
Gene: Ube3a  Location: Chr7:59228752-59306727 bp, + strand  Genetic Position: Chr7, 33.95 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:75622
Parent Cell Line:  J1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout, Reporter)
Mutations:    Insertion, Intragenic deletion
 
Mutation details3.2 kb of the gene including part of exon 15 and all of exon 16 was replaced with a IRES-lacZ-neo cassette via homologous recombination resulting in deletion of the C-terminal region encoding ubiquitin protein ligase activity. Absence of gene expression in animals carrying a mutant maternal allele was confirmed by Western blot analysis. Beta-gal staining of brain sections from maternal-deficient animals showed high levels of lacZ activity in the hippocampus, dentate gyrus, ventricular ependyma, and in scattered cells throughout the frontal cortex. (J:75622)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 24 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ube3a Mutation:  23 strains or lines available
References
Original:  J:75622 Miura K, et al., Neurobehavioral and electroencephalographic abnormalities in ube3a maternal-deficient mice. Neurobiol Dis. 2002 Mar;9(2):149-59
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory