Genotype to phenotype: Modelling the impact of natural TGFbR2 expression variation on fibrosis initiation in vivo

Introduction: Complex diseases in man are caused by combinations of subtle variations in the expression of genes rather than total loss of function. Model systems are required to analyse genotype-to-phenotype correlation for natural expression variation in vivo. For this study we availed of BXD lines, which are recombinant inbred F2 offspring of inbred mouse strains C57BL/6J (B) and DBA/2J (D). Due to the inheritance of different combinations of regulatory molecules, BXD lines show a normal distribution of expression for all genes analysed. Aims: We hypothesised that the natural variation of TGF-β receptor type…