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Ube3atm1Alb
Targeted Allele Detail
Nomenclature
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
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:50811
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprtb-m2
Mutation
description
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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 7 anatomical structures
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
References
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:  61 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
06/12/2018
MGI 6.12
The Jackson Laboratory