A novel nonsense mutation and polymorphisms in the mouse hairless gene

Abstract

A novel autosomal recessive mutation arose spontaneously in a breeding colony of Chinese Kunming mice. The characteristics of these mutant mice include progressive irreversible hair loss soon after birth, rhinocerotic appearance, and shorter life span. Histological evaluation of skin revealed the homogeneous enlargement of utriculi, and the formation of several rows of large cysts. Sequencing the complete cDNA of the hairless gene identified two polymorphisms and a homozygous transition for a G → A at nucleotide position 3110 (exon 12) leading to the substitution of tryptophan by a nonsense codon, designated W911X. This allele was named rhinocerotic and short-lived, with the symbol hrrhsl. Addition of hairless gene mutation into the expanding hairless mutation database allows further development of genotype/phenotype correlations towards understanding inherited atrichia. Copyright © 2005 by The Society for Investigative Dermatology, Inc.