Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Dsg3bal
Name:	desmoglein 3; balding
MGI ID:	MGI:1856692
Synonyms:	Dsg3bal-J
Gene:	Dsg3  Location: Chr18:20643331-20674367 bp, + strand  Genetic Position: Chr18, 11.39 cM
Alliance:	Dsg3bal page

Strain of Origin:

C57BL/6J

Allele Type:    Spontaneous Mutation:    Insertion   Mutation details: This 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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

5 anatomical structure(s)

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:	73 strains or lines available

Original:	J:13702 Fox S, et al., Balding (bal). Mouse News Lett. 1977;56:40
All:	7 reference(s)