Faculty Research 1990 - 1999

Title

Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene.

Document Type

Article

Publication Date

1998

Keywords

Animal, Base-Sequence, DNA-Mutational-Analysis, DNA-Primers: ge, Genes-Recessive, Hair-Follicle: pa, Mice, Mice-Inbred-HRS, Mutation, Phenotype, Polymerase-Chain-Reaction, Proteins: ge, SUPPORT-NON-U-S-GOVT, SUPPORT-U-S-GOVT-P-H-S

JAX Source

Genomics 1998 Nov 1;53(3):383-6

Grant

P30AR44535/AR/NIAMS

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. Copyright 1998 Academic Press.