title: 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 hr(rhsl). Addition of hairless gene mutation into the expanding hairless mutation database allows further development of genotype/phenotype correlations towards understanding inherited atrichia.
authors.affiliation: College of Life Sciences, Zhejiang University, and the State Conservation Center for Gene Resources of Endangered Wildlife, Zhejiang, China.
authors.forename: Jin-Tao
authors.initials: JT
authors.lastname: Zhang
authors.forename: Sheng-Guo
authors.initials: SG
authors.lastname: Fang
authors.forename: Chun-Yao
authors.initials: CY
authors.lastname: Wang
mesh_terms: D000818:Animals; D001483:Base Sequence; D018389:Codon, Nonsense; D003596:Cytosine; D006147:Guanine; D051379:Mice; D008812:Mice, Hairless; D008807:Mice, Inbred BALB C; D008817:Mice, Mutant Strains; D008969:Molecular Sequence Data; D010641:Phenotype; D011110:Polymorphism, Genetic; D012867:Skin / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*; D014364:Tryptophan
chemical_list: D018389:Codon, Nonsense; D014157:Transcription Factors; C088661:hr protein, mouse; D006147:Guanine; D014364:Tryptophan; D003596:Cytosine