Del(7Gabrb3-Ube3a)1Yhj
Targeted Allele Detail

Summary

• Symbol: Del(7Gabrb3-Ube3a)1Yhj
• Name: deletion, Chr 7, Yong-hui Jiang 1
• MGI ID: MGI:4830970
• Gene: Del(7Gabrb3-Ube3a)1Yhj Location: Chr7:57240266-58956481 bp Genetic Position: Chr7, Syntenic

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:164010
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intergenic deletion, Intragenic deletion
• Del(7Gabrb3-Ube3a)1Yhj involves 14 genes/genome features (Gabrb3, Gm5596, Gm18127 ...) View all
• Mutation details: Exon2 of Ube3a was replaced with a cassette containing Hprt exons1-2, a loxP site, and a neomycin selection cassette. On the same chromosome, part of Gabrb3 exon 1 and all of exon 2 were replaced by a cassette containing Hprt exons 3-9, another loxP site and a puromycin selection cassette. Properly targeted ES cells were then subjected to transient cre expression. Excision of sequence between Gabrb3 and Ube3a resulted in the creation of a complete Hprt gene that was then used to select for the desired deletion event. The deleted interval extended from 64846987 bp to 66527319 bp) based on the NCBI Build 37 assembly and includes Atp10a. (J:164010)

Disease models

Expression

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 Del(7Gabrb3-Ube3a)1Yhj Mutation: 0 strains or lines available

References

• Original: J:164010 Jiang YH, et al., Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3. PLoS One. 2010;5(8)
• All: 3 reference(s)