Ube3a^tm1Jwf
Targeted Allele Detail

Summary

• Symbol: Ube3a^tm1Jwf
• Name: ubiquitin protein ligase E3A; targeted mutation 1, Joseph Wagstaff
• MGI ID: MGI:2182454
• Synonyms: Ube3a (m-)
• Gene: Ube3a Location: Chr7:58878498-58961284 bp, + strand Genetic Position: Chr7, 33.95 cM
• Alliance: Ube3a^tm1Jwf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:75622
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: 3.2 kb of the gene including part of exon 15 and all of exon 16 was replaced with a IRES-lacZ-neo cassette via homologous recombination resulting in deletion of the C-terminal region encoding ubiquitin protein ligase activity. Absence of gene expression in animals carrying a mutant maternal allele was confirmed by Western blot analysis. Beta-gal staining of brain sections from maternal-deficient animals showed high levels of lacZ activity in the hippocampus, dentate gyrus, ventricular ependyma, and in scattered cells throughout the frontal cortex. (J:75622)

Disease models

Expression

In Mice Carrying this Mutation:	34 assay results
In Structures Affected by this Mutation:	1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Ube3a Mutation: 68 strains or lines available

References

• Original: J:75622 Miura K, et al., Neurobehavioral and electroencephalographic abnormalities in ube3a maternal-deficient mice. Neurobiol Dis. 2002 Mar;9(2):149-59
• All: 10 reference(s)