Although the phenotypes of mouse IFT mutants do not overlap with phenotypes of known Wnt pathway mutants, recent studies report data suggesting that the primary cilium modulates responses to Wnt signals.
However, human patients and mouse mutants often do not display identical phenotypes.
7) Are there mouse mutants that do show cerebellar deficits, but no signs of autism (as described above)?
In contrast to almost all published Scn8a mouse mutants, we did not observe degenerative changes in skeletal muscle, cerebellum or any gait defects or paralysis in Scn8a Clth /Scn8a Clth mice.
Obviously, peroxidasin does not affect early eye development, because at E9.5 E12.5, the early stages for eye development in mice, peroxidasin-mutants do not exhibit gross eye morphological changes.
Alone, when infected into p21 −/− mice or wild-type mice, this mutant did not promote tumor development by 9 weeks, when this experiment was ended.
In addition, precise reference intervals for biochemical and hematological parameters will allow a more detailed characterization of mouse mutants harboring mutations that often do not induce striking phenotypes, such as micro-RNAs depletion.
Moreover, mouse mutants with defective PCP signaling do not show changes in levels of cell proliferation or apoptosis and instead show altered cytoskeleton distribution (10).
These results strongly suggest that although relatively minor differences were seen in the distribution of lymphocyte subsets in wild type and mutant mice before infection or after primary infection, mutant mice do differ in immunologically significant ways, which result in a dramatic increase in mortality following secondary bacterial exposure.
This difference could explain why Dync2h1 mutant mice have developmental defects including polydactyly, while BBS mutant mice do not.
