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.
Copyright 1998 Academic Press.