Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

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: Chr7:58878498-58961284 bp, + strand  Genetic Position: Chr7, 33.95 cM
Alliance:	Ube3atm1Alb page

Germline Transmission:	Earliest citation of germline transmission: J:50811
Parent Cell Line:	AB2.2 (ES Cell)
Strain of Origin:	129S7/SvEvBrd-Hprt1b-m2

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)

View phenotypes and curated references for all genotypes (concatenated display).

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

List all tumor models in MMHCdb carrying Ube3atm1Alb

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

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:	106 reference(s)