Ube3a^tm1Yelg
Targeted Allele Detail

Summary

• Symbol: Ube3a^tm1Yelg
• Name: ubiquitin protein ligase E3A; targeted mutation 1, Ype Elgersma
• MGI ID: MGI:5704099
• Synonyms: Ube3a^stop
• Gene: Ube3a Location: Chr7:58878498-58961284 bp, + strand Genetic Position: Chr7, 33.95 cM
• Alliance: Ube3a^tm1Yelg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:222400
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutation: Insertion
• Mutation details: A neomycin-stop cassette flanked by loxP sites was inserted into intron 3 via homologous recombination. Cre-mediated recombination can be used to reinstate gene expression. Western blot analysis of hippocampus, cortex, and cerebellum in mice with a maternally inherited allele show a severe decrease in protein levels. (J:222400)

Disease models

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:222400 Silva-Santos S, et al., Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model. J Clin Invest. 2015 May;125(5):2069-76
• All: 8 reference(s)