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Targeted Allele Detail
Symbol: Ube3atm1Alb
Name: ubiquitin protein ligase E3A; targeted mutation 1, Arthur L Beaudet
MGI ID: MGI:2181811
Synonyms: E6-AP-, E6AP-, Ube3A KO
Gene: Ube3a  Location: Chr7:59228750-59311536 bp, + strand  Genetic Position: Chr7, 33.95 cM
Germline Transmission:  Earliest citation of germline transmission: J:50811
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
Mutation detailsA 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)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Ube3a Mutation:  40 strains or lines available
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
All:  55 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.11
The Jackson Laboratory