1. ^*College of Life Sciences, Zhejiang University, and the Key Laboratory of Conservation Genetics and Reproductive Biology for Endangered Wild Animals of the Ministry of Education, State Conservation Center for Gene Resources of Endangered Wildlife, Hangzhou, Zhejiang, China
2. ^†Laboratory Animal Center of Zhengzhou University, Zhengzhou, Henan, China

Correspondence: Sheng-Guo Fang, College of Life Sciences, Zhejiang University, No. 268 Kai Xuan Road, Hangzhou, 310029 Zhejiang, China. Email: sgfanglab@zju.edu.cn

Received 28 October 2004; Revised 20 January 2005; Accepted 4 February 2005; Published online 3 June 2005.

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 GA 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 hr^rhsl. Addition of hairless gene mutation into the expanding hairless mutation database allows further development of genotype/phenotype correlations towards understanding inherited atrichia.