| First Author | Ahmad W | Year | 1998 |
| Journal | Genomics | Volume | 53 |
| Issue | 3 | Pages | 383-6 |
| PubMed ID | 9799606 | Mgi Jnum | J:50909 |
| Mgi Id | MGI:1313034 | Doi | 10.1006/geno.1998.5495 |
| Citation | Ahmad W, et al. (1998) Molecular basis for the rhino (hrrh-8J) phenotype: a nonsense mutation in the mouse hairless gene. Genomics 53(3):383-6 |
| abstractText | 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 abnormali-ties 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. |
