The Tsk2/+ Mouse Fibrotic Phenotype is Due to a Gain-of-Function Mutation in the PIIINP Segment of the Col3a1 Gene

Author: Kristen B Long, Zhenghui Li, Chelsea M Burgwin, et al
Date Published: October-2014
Source: Journal of Investigative Dermatology

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 less than 3 megabases on chromosome 1.