414 A new form of ectodermal dysplasia caused by mutations in TSPEAR (original) (raw)

2016, Journal of Investigative Dermatology

Hairless mice were first described over 150 years ago in the form of the severe rhino mouse mutation (Hr rh) closely followed by a more mild phenotypic allele named hairless (Hr hr). Eventually both these alleles were established in both inbred and outbred mouse colonies. About 30 years ago these mice, primarily the hairless allele as it was called with the milder phenotype, became commonly used for skin cancer research, both UV light and chemical carcinogen induced, as the mice lacked hair as adults and were considered by many to be useful models of normal human skin. Subsequently, it was found that the Hr was a good model of papular atrichia. Today, there is a rich, but possibly confusing, landscape of different mutant Hr alleles present on a multitude of inbred, outbred, congenic, and segregating mouse strains. To confound this problem further there are also a number of mutant Hr phenocopies, i.e. mouse strains with mutations in genes that mimic the hairless phenotype, such as mutant alleles in the Vdr, Odc1, and other genes in the putrescine pathway. In this overview, we will clarify the phenotypes, genotypes, and mouse strain considerations that need to be accounted for when designing a study and interpreting the results of studies using these mice including many new alleles, both spontaneous and genetically engineered.