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Figure 5. Skeletal muscle phenotype caused by injection of mRNA for variant KCNJ2. Images of the skeletal muscle phenotypes observed in injected tadpole tails; in A–C anterior is to the left and dorsal is up, in D–G anterior is to the right and dorsal is up and in H–L anterior is up. A, live tadpole tail imaged using polarized light. Normal muscles, indicated by the green arrows, yield clear, organized, light patterns. In contrast, abnormal muscles are obviously disordered. B, expression of D71V-tdTomato in the same tail. C, overlay of A and B shows the overlap of variant KCNJ2 expression with the position of abnormal muscle structure, and its absence from the normal muscle (now pseudocoloured green). D–G, a comparison of the organization of fibronectin in normal tails versus tails injected with variant KCNJ2 lacking a fluorescent protein. In the injected animal (F, G) the normal pattern of expression has been severely disrupted, although the muscles look normally organized in brightfield. H, polarized light image of an R218W-injected animal that nonetheless shows normal organization of the tail muscles. I and J, tails from R218W-expressing tadpoles show characteristic alterations to the normal chevron pattern of the muscle blocks. Red arrows indicate especially large deviations. K and L, tails from T192A-expressing tadpoles also display the same types of deviations from the normal morphology, illustrating a similarity of muscle phenotypes that parallels the similarity of CFAs induced by different variants.

Image published in: Adams DS et al. (2016)

Copyright © 2016. This image is reproduced with permission of the publisher and the copyright holder. This is an Open Access article distributed under the terms of the Creative Commons Attribution License.

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