title: Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene.
abstract: The hairless (hr) and rhino (hrrh) mutations are autosomal recessive allelic mutations that map to mouse Chromosome 14. Both hairless and rhino mice have a number of skin and nail abnormalities and develop a striking form of total alopecia at approximately 3-4 weeks of age. The molecular basis of the hairless mouse phenotype was previously found to be the result of a murine leukemia proviral insertion in intron 6 of the hr gene that resulted in aberrant splicing. In this study, we report a 2-bp substitution in exon 4 of the hr gene in a second allele of hr, rhino 8J (hrrh-8J), leading to a nonsense mutation. These findings document the molecular basis of the rhino phenotype for the first time and suggest that rhino is a functional knock-out of the hr gene.
authors.affiliation: Department of Dermatology, Columbia University, New York, New York, 10032, USA.
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
authors.forename: A A
authors.initials: AA
authors.lastname: Panteleyev
authors.forename: J P
authors.initials: JP
authors.lastname: Sundberg
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D000483:Alleles; D000818:Animals; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005808:Genes, Recessive; D018859:Hair Follicle / Q000473:pathology; D051379:Mice; D008812:Mice, Hairless; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D014157:Transcription Factors
chemical_list: D017931:DNA Primers; D011506:Proteins; D014157:Transcription Factors; C088661:hr protein, mouse