A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

December 2014 in “ The American journal of pathology ”

Evgueni I. Kountikov, Jonathan C. Poe, Nancie J. Maclver, Jeffrey C. Rathmell, Thomas F. Tedder

desmoglein 3 hypomorphic protein expression immunodeficiency cyclic hair loss desmosome function pemphigus vulgaris

TLDR A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.

The study investigated mice with a spontaneous deletion in the desmoglein 3 gene, leading to a hypomorphic protein expression. These mice exhibited severe immunodeficiency, cyclic hair loss, obstructed airways, and wasting disease due to oral lesions and malnutrition. Genetic mapping identified a deletion causing a truncated desmoglein 3 protein, which resulted in more severe pathology than complete desmoglein 3 deficiency. This suggests that similar genetic alterations in humans could disrupt desmosome function and cause diseases distinct from pemphigus vulgaris.

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A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

research A Spontaneous Deletion Within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype

11 citations, December 2014 in “The American journal of pathology”

A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.