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Thus, like Crb over-expression, the over-expression of aPKCΔN reproduced many of the scrib mutant defects, including the alterations in cell morphology, ectopic cell proliferation and JNK-dependent cell death.
Blocking aPKC activity in scrib mutant clones restores most of the mutant defects, including the alterations in cell morphology and the ectopic cell proliferation, but it does not rescue the mutant cells from JNK-mediated cell death.
Thus, having confirmed that ectopic JNK signalling in scrib mutant cells promoted cell death, we next wished to determine if any of the other scrib mutant defects, including the ectopic cell proliferation and altered cell morphology, were also dependent upon JNK.
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Furthermore, kidneys of Invs inv mutant mice exhibit defects including cyst formation and a delay in tubular maturation (Yokoyama et al., 1993; Sugiyama and Yokoyama, 2006).
In addition to causing a shift in distribution of yFACT toward the 3′ ends of transcribed genes, the H3-L61W mutant confers additional defects, including cold-sensitivity (Cs−) and sensitivity to the drugs caffeine, hydroxyurea, and formamide (Caffs, HUs, and Forms, respectively) (Duina and Winston 2004; Myers et al. 2011).
These two ipla-1 mutants were viable and fertile; however, some of ipla-1 mutants exhibited vulval defects, including a protruding vulva and occasional vulval bursting (Supplementary Figure 2A and B).
This difference could explain why Dync2h1 mutant mice have developmental defects including polydactyly, while BBS mutant mice do not.
Homozygous mouse knockouts develop asymmetrically and have cardiovascular defects, while homozygous zebrafish mutants have various defects including abnormal fins and brains (28– 30).
Subsequent analysis of Robo1 mutants revealed similar defects including dysgenesis of the corpus callosum and hippocampal commissure, and abnormalities in corticothalamic and thalamocortical targeting.
By using zebrafish embryos as a model, they go on to show that expression of I24N or other disease-associated activating N-Ras mutants causes developmental defects, including cell migration defects during gastrulation.
Furthermore, Scn8a Clth /Scn8a Clth mice displayed a greater frequency of trunk curling and limb grasping, which are often displayed by mouse mutants with neurological defects including Scn8a med − TgA 4 Bs / Scn8a med − TgA 4 Bs mice (Kohrman et al. 1995).
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