Article
The Tsk2/+ mouse fibrotic phenotype is due to a gain-of-function mutation in the PIIINP segment of the Col3a1 gene.
The Journal of investigative dermatology - 1 Mar 2015
Long Kristen B, Li Zhenghui, Burgwin Chelsea M, Choe Susanna G, Martyanov Viktor, Sassi-Gaha Sihem, Earl Josh P, Eutsey Rory A, Ahmed Azad, Ehrlich Garth D, Artlett Carol M, Whitfield Michael L, Blankenhorn Elizabeth P
Abstract excerpt
Systemic sclerosis (SSc) is a polygenic, autoimmune disorder of unknown etiology, characterized by the excessive accumulation of extracellular matrix (ECM) proteins, vascular alterations, and autoantibodies. The tight skin (Tsk)2/+ mouse model of SSc demonstrates signs similar to SSc including tight skin and excessive deposition of dermal ECM proteins. By linkage analysis, we mapped the Tsk2 gene mutation to <3...
Topics
- Animals
- Collagen Type III
- Disease Models, Animal
- Female
- Fibrosis
- Genetic Linkage
- Genotype
- Male
- Mice
- Mice, Inbred C57BL