Dsg3^bal
Spontaneous Allele Detail

Summary

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

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

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: 74 strains or lines available

References

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