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Dsg3bal
Spontaneous Allele Detail
Nomenclature
Symbol: Dsg3bal
Name: desmoglein 3; balding
MGI ID: MGI:1856692
Synonyms: Dsg3bal-J
Gene: Dsg3  Location: Chr18:20510304-20541310 bp, + strand  Genetic Position: Chr18, 11.39 cM
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Insertion
 
Mutation detailsThis mutation was identified as an insertion of a thymidine residue in exon 14. The insertion causes a frameshift that results in a premature stop codon 78 bp downstream of the insertion. Antibodies to both extracellular and intracellular epitopes failed to stain epithelium of homozygous mutant mice, suggesting that any protein that may be synthesized is not inserted into the plasma membrane and/or is rapidly degraded. (J:40804)
Inheritance:    Recessive
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dsg3 Mutation:  6 strains or lines available
References
Original:  J:13702 Fox S, et al., Balding (bal). Mouse News Lett. 1977;56:40
All:  7 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/24/2015
MGI 5.21
The Jackson Laboratory