Читать книгу Pathology of Genetically Engineered and Other Mutant Mice - Группа авторов - Страница 104

Careful gross examination of the heart and great vessels should be included when phenotyping any genetically engineered mouse line showing decreased viability [62, 63]. Cilia play a key role in cell signaling pathways that regulate the development of the heart and large blood vessels, particularly those involved in left–right patterning. Although situs inversus totalis is generally asymptomatic, complex congenital cardiac defects and transposition of the great vessels of the heart are often associated with situs ambiguus or heterotaxy [64–66]. Interestingly, humans with congenital heart disease show a high prevalence of ciliary dysfunction and de novo ciliary mutations, suggesting that ciliary functions other than left–right positioning may be involved [67].

Figure 6.7 Eye. Advanced retinal degeneration there is characterized by a marked reduction in the thickness of the outer nuclear layer photoreceptors.