Jup^tm2.1Chen
Targeted Allele Detail

Summary

• Symbol: Jup^tm2.1Chen
• Name: junction plakoglobin; targeted mutation 2.1, Ju Chen
• MGI ID: MGI:5755303
• Synonyms: FuseNax
• Gene: Jup Location: Chr11:100259784-100288589 bp, - strand Genetic Position: Chr11, 63.47 cM
• Alliance: Jup^tm2.1Chen page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:222025
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

Allele Type: Targeted Mutations: Insertion, Intragenic deletion Mutation details: Exons 10 through 14 were replaced with a loxP site, wild-type cDNA fusion encompassing exons 10 through 14, an FRT-flanked neomycin resistance cassette with a 3' loxP site, and a cDNA fusion of exons 10 through 14 with the TG deletion in exon 10 and premature stop codon in exon 12. This mutation mimics the mutation found in patients with Naxos disease. Cre-mediated recombination removed the wild-type cDNA fusion. Western blot analysis confirms normal expression levels of the truncated protein. (J:222025)

Generation of the Jup^tm2.1Chen allele

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 Jup Mutation: 162 strains or lines available

References

• Original: J:222025 Zhang Z, et al., Normalization of Naxos plakoglobin levels restores cardiac function in mice. J Clin Invest. 2015 Apr;125(4):1708-12
• All: 1 reference(s)