| First Author | Siracusa LD | Year | 1996 |
| Journal | Genome Res | Volume | 6 |
| Issue | 4 | Pages | 300-13 |
| PubMed ID | 8723723 | Mgi Jnum | J:32931 |
| Mgi Id | MGI:80418 | Doi | 10.1101/gr.6.4.300 |
| Citation | Siracusa LD, et al. (1996) A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. Genome Res 6(4):300-13 |
| abstractText | Mice carrying the Tight skin (Tsk) mutation have thickened skin and visceral fibrosis resulting from an accumulation of extracellular matrix molecules. These and other connective tissue abnormalities have made Tskl + mice models for scleroderma, hereditary emphysema, and myocardial hypertrophy. Previously we localized Tsk to mouse chromosome 2 in a region syntenic with human chromosome 15. The microfibrillar glycoprotein gene, fibrillin 1 (FBN1), on human chromosome 15q, provided a candidate for the Tsk mutation. We now demonstrate that the Tsk chromosome harbors a 30- to 40-kb genomic duplication within the Fbn1 gene that results in a larger than normal in-frame Fbn1 transcript. These findings provide hypotheses to explain some of the phenotypic characteristics of Tskl + mice and the lethality of Tsk/Tsk embryos. |
