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Juptm2.1Chen
Targeted Allele Detail
Nomenclature
Symbol: Juptm2.1Chen
Name: junction plakoglobin; targeted mutation 2.1, Ju Chen
MGI ID: MGI:5755303
Synonyms: FuseNax
Gene: Jup  Location: Chr11:100368958-100397763 bp, - strand  Genetic Position: Chr11, 63.47 cM
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 detailsExons 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 Juptm2.1Chen allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  126 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory