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Overall, we found good agreement between the model's prediction and reported mouse phenotypes, suggesting that the mouse reconstruction has similar quality properties as Recon 1.
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Indeed, the comparatively mild mouse phenotype suggests that the most important function of ADAM9 may be in areas of high photoreceptor density or associated with cones.
The severity and pleiotropy of the Bcl2−/− mouse phenotype suggests that human stapes defects are unlikely to be caused by inherited, null alleles of Bcl2.
Collectively, these observations, together with the Spry2 null mouse phenotype, suggested that Muenke syndrome patients and a mouse model of the Muenke syndrome mutation (28) should undergo comprehensive auditory phenotyping.
Differential expression experiments reported here and known mouse knockout phenotypes suggest Rab22a and Gnas as candidate genes for the Fatq2b QTL, though, additional experiments are required to confirm any gene as the causal gene for Fatq2b.
In fact, both increases and decreases in Notch signalling in mice produce similar vascular phenotypes, suggesting that the level of signalling is critical for optimal blood vessel development.
In our TGF β1 transgenic model, we previously reported that expression of endogenous TGF β1 was induced in mice with more severe phenotypes, suggesting potential involvement of a positive feedback loop [ 5].
Mouse IFT mutants have paradoxical phenotypes suggesting both a partial gain and partial loss of Hh function in different organs.
This is in contrast to the mouse phenotype and suggests that the roles of the CatSper complex in normal physiology differ between mouse and human.
These analyses provide the first transcriptomics-based assessment of correspondence between human psoriasis and multiple mouse phenotypes, and we suggest that similar analytic strategies can be adopted in future work to evaluate existing and new mouse models of psoriasis and other skin diseases.
These rescued mice have a normal phenotype, suggesting that the unedited GluR2 isoform does not have an essential biological function.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com