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Abstract：
BACKGROUND: We compared skull shape and variation among genetically modified mice that exhibit different levels of connexin43 (Cx43) channel function, to determine whether Cx43 contributes to craniofacial phenotypic robustness. Specifically, we used two heterozygous mutant mouse models (G60S/+ and I130T/+) that, when compared to their wildtype counterparts, have an ~80% and ~50% reduction in Cx43 function, respectively.
RESULTS: Both mutant strains showed significant differences in skull shape compared to wildtype littermates and while these differences were more severe in the G60S/+ mouse, shape differences were localized to similar regions of the skull in both mutants. However, increased skull shape variation was observed in G60S/+ mutants only. Additionally, covariation of skull structures was disrupted in the G60S/+ mutants only, indicating that while a 50% reduction in Cx43 function is sufficient to cause a shift in mean skull shape, the threshold for Cx43 function for disrupting craniofacial phenotypic robustness is lower.
CONCLUSIONS: Collectively, our results indicate Cx43 can contribute to phenotypic robustness of the skull through a nonlinear relationship between Cx43 gap junctional function and phenotypic outcomes.
RESULTS: Both mutant strains showed significant differences in skull shape compared to wildtype littermates and while these differences were more severe in the G60S/+ mouse, shape differences were localized to similar regions of the skull in both mutants. However, increased skull shape variation was observed in G60S/+ mutants only. Additionally, covariation of skull structures was disrupted in the G60S/+ mutants only, indicating that while a 50% reduction in Cx43 function is sufficient to cause a shift in mean skull shape, the threshold for Cx43 function for disrupting craniofacial phenotypic robustness is lower.
CONCLUSIONS: Collectively, our results indicate Cx43 can contribute to phenotypic robustness of the skull through a nonlinear relationship between Cx43 gap junctional function and phenotypic outcomes.
摘要：
背景：我们比较了表现出不同水平的连接蛋白43（Cx43）通道功能的转基因小鼠的头骨形状和变异，确定Cx43是否有助于颅面表型稳健性。具体来说,我们使用了两种杂合突变小鼠模型（G60S/+和I130T/+），当与它们的野生型对应物相比时，Cx43功能减少约80%和约50%，分别。
结果：与野生型同窝动物相比，两种突变菌株在颅骨形状上都显示出显着差异，尽管这些差异在G60S/小鼠中更为严重，在两个突变体中，形状差异位于颅骨的相似区域。然而,仅在G60S/突变体中观察到颅骨形状变化增加。此外,颅骨结构的共变仅在G60S/+突变体中被破坏，表明虽然Cx43功能减少50%就足以引起平均颅骨形状的改变，Cx43功能破坏颅面表型稳健性的阈值较低.
结论：总的来说，我们的结果表明,Cx43可通过Cx43间隙连接功能与表型结局之间的非线性关系,有助于颅骨的表型稳健性.
结果：与野生型同窝动物相比，两种突变菌株在颅骨形状上都显示出显着差异，尽管这些差异在G60S/小鼠中更为严重，在两个突变体中，形状差异位于颅骨的相似区域。然而,仅在G60S/突变体中观察到颅骨形状变化增加。此外,颅骨结构的共变仅在G60S/+突变体中被破坏，表明虽然Cx43功能减少50%就足以引起平均颅骨形状的改变，Cx43功能破坏颅面表型稳健性的阈值较低.
结论：总的来说，我们的结果表明,Cx43可通过Cx43间隙连接功能与表型结局之间的非线性关系,有助于颅骨的表型稳健性.
