A dominant-negative Gjb2 R75W transgenic mouse model shows incomplete development of the cochlear supporting cells, resulting in profound deafness from birth [Inoshita A et al. (2008) Neuroscience 156:1569–1567].
Other, less classical mouse models of HPE, however, do show incomplete penetrance and phenotypic variability, making them potentially more amenable to environmental manipulation with a resultant shift in a phenotypic outcome.
This work investigates the effects of environmental exposure to teratogens in a mouse model predisposed to HPE. Results Twisted gastrulation (Twsg1) mutant mice serve as a model of human HPE because they show incomplete penetrance and a range of defects among homozygotes.
Of the nine models previously reported in the literature, only the model by Xue et al. shows incomplete cirrhosis (Ishak score = 5) with portal fibrosis, bridging fibrosis, and regenerative nodules [ 23, 28].
Interestingly, many phenotypic features of the Chd7 mutation showed incomplete penetrance in our model mice, despite the use of inbred, genetically identical mice.
With this lower dose, only 11%% showed incomplete absorption.
Experimental group shows incomplete healing of extraction site.
The testis showed deformed architecture, some testicular acini showed incomplete fusion and others with elongated shape.
b Z group shows incomplete healing of oral mucosa, showing exposed, necrotic, alveolar bone.
Exclusion criteria: Studies showing incomplete protection in immunized subjects, or incomplete control infectivity, were excluded.
