Article
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.
Genome research - 1 Apr 1996
Siracusa L D, McGrath R, Ma Q, Moskow J J, Manne J, Christner P J, Buchberg A M, Jimenez S A
Abstract excerpt
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. P...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Connective Tissue Diseases
- DNA, Complementary
- Disease Models, Animal
- Electrophoresis, Gel, Pulsed-Field
- Fibrillin-1
- Fibrillins
- Humans
- Mice
- Microfilament Proteins
- Molecular Sequence Data
- Multigene Family
- Mutation
- Phenotype
- RNA, Messenger