Hot off the Press! Our new paper is here journal.pone.0085145.
Known colloquially as the “CHOMP” mouse (Homozygous for COMP T585M and CHOP null) this study has allowed us to determine that CHOP-mediated apoptosis (cell death) is an early contributing factor to reduced bone growth in pseudoachondroplasia.
However, what we also noticed was that changing the genetic background (strain) influenced the severity of the phenotype, thereby supporting the hypothesis that there are genetic modifiers of pseudoachondroplasia (and multiple epiphyseal dysplasia) severity.
More to follow……..