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| Nomenclature |
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Symbol:
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Ube3atm1Jwf
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Name:
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ubiquitin protein ligase E3A;
targeted mutation 1, Joseph Wagstaff
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MGI ID: |
MGI:2182454 |
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Synonyms: |
Ube3a (m-) |
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Gene:
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Ube3a
Location:
Chr7:59228752-59306727 bp, + strand
Genetic Position: Chr7,
33.95 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:75622
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (Reporter) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: 3.2 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Ube3a Mutation:
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18 strains or lines available |
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| References |
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Original: |
J:75622
Miura K et al.,
"Neurobehavioral and electroencephalographic abnormalities in ube3a maternal-deficient mice."
Neurobiol Dis 2002 Mar;9(2):149-59
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All: |
6 reference(s)
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Analysis Tools
