Ube3a^tm1Alb
Targeted Allele Detail

Summary

• Symbol: Ube3a^tm1Alb
• Name: ubiquitin protein ligase E3A; targeted mutation 1, Arthur L Beaudet
• MGI ID: MGI:2181811
• Synonyms: E6-AP^-, E6AP^-, Ube3A KO
• Gene: Ube3a Location: Chr7:58878498-58961284 bp, + strand Genetic Position: Chr7, 33.95 cM
• Alliance: Ube3a^tm1Alb page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:50811
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• 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)

Disease models

Expression

In Mice Carrying this Mutation:	23 assay results
In Structures Affected by this Mutation:	7 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Ube3a^tm1Alb

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: 68 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. Neuron. 1998 Oct;21(4):799-811
• All: 109 reference(s)