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| Nomenclature |
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Symbol:
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Ube3atm1Alb
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Name:
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ubiquitin protein ligase E3A;
targeted mutation 1, Arthur L Beaudet
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MGI ID: |
MGI:2181811 |
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Synonyms: |
E6-AP-, E6AP-, Ube3A KO |
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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:50811
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Parent Cell Line:
| AB2.2 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprtb-m2
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: 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. (J:50811)
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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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| References |
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Original: |
J:50811
Jiang YH et al.,
"Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation [see comments]"
Neuron 1998 Oct;21(4):799-811
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All: |
29 reference(s)
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Analysis Tools
