C57BL/6J-Dsg3^bal/J

Stock number: 000519
Product name: balding
Research areas: Dermatology Research, Immunology, Inflammation and Autoimmunity Research, Mouse/Human Gene Homologs

Detailed description

The balding (Dsg3^bal) mutation of the mouse is an autosomal recessive mutation that causes alopecia and immunologic anomalies.

Development

The mutation arose spontaneously in the C57BL/6J inbred strain. Embryos produced by mating heterozygous C57BL/6J-Dsg3^bal/J males to C57BL/6J females were cryopreserved in 1983.

Allele

Symbol: Dsg3^bal
Name: balding
MGI accession ID: MGI:1856692
Generation method: Spontaneous
Synonyms: Dsg3^bal-J
Marker symbol: Dsg3
Marker name: desmoglein 3
Chromosome: 18
Strain of origin: C57BL/6J
Molecular note: 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.