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Juptm1.1Chen
Targeted Allele Detail
Nomenclature
Symbol: Juptm1.1Chen
Name: junction plakoglobin; targeted mutation 1.1, Ju Chen
MGI ID: MGI:5755302
Synonyms: OriNax
Gene: Jup  Location: Chr11:100368958-100397763 bp, - strand  Genetic Position: Chr11, 63.47 cM
Wrinkled, looser skin, thinning of the epidermis, and lack of milk in the stomach of Juptm1.1Chen/Juptm1.1Chen pups

Show the 1 phenotype image(s) involving this allele.

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 (Hypomorph)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA floxed neomycin resistance cassette was inserted upstream of exon 10. Exon 11 was replaced with a modified one in which a TG were deleted. This mutation mimics the mutation found in patients with Naxos disease and results in a premature stop codon in exon 12. Flp-mediated recombination removed the selection cassette. RT-PCR confirmed reduced transcript expression. (J:222025)
Generation of the Juptm1.1Chen allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structures
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