Article
Structure of the mutant fibrillin-1 gene in the tight skin (TSK) mouse.
DNA research : an international journal for rapid publication of reports on genes and genomes - 31 Aug 1997
Bona C A, Murai C, Casares S, Kasturi K, Nishimura H, Honjo T, Matsuda F
Abstract excerpt
Mice carrying the tight skin (TSK) mutation harbors a 3.0-kb genomic duplication (exons 17-40) of the fibrillin-1 gene (Fbn-1) located on band F of chromosome 2 as TSK mutation. We cloned and sequenced the mutated Fbn-1 gene, since it is believed to be responsible for TSK syndrome. Sequence analy...
Topics
- Animals
- Calcium
- Chromosome Mapping
- DNA Primers
- DNA, Complementary
- Epidermal Growth Factor
- Extracellular Matrix Proteins
- Fibrillin-1
- Fibrillins
- Genes
- Mice
- Mice, Inbred C57BL
- Mice, Mutant Strains
- Microfilament Proteins
- Mutation
- Polymerase Chain Reaction
- Skin
- Transforming Growth Factor beta
