FIGURE SUMMARY
Title

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Authors
Hammarsjö, A., Wang, Z., Vaz, R., Taylan, F., Sedghi, M., Girisha, K.M., Chitayat, D., Neethukrishna, K., Shannon, P., Godoy, R., Gowrishankar, K., Lindstrand, A., Nasiri, J., Baktashian, M., Newton, P.T., Guo, L., Hofmeister, W., Pettersson, M., Chagin, A.S., Nishimura, G., Yan, L., Matsumoto, N., Nordgren, A., Miyake, N., Grigelioniene, G., Ikegawa, S.
Source
Full text @ Sci. Rep.

Skeletal morphogenesis is affected in zebrafish larvae expressing truncated kiaa0753. (a) Heterozygous and wild-type carriers have a straight body; (b) Zebrafish expressing mutant Kiaa0753 in homozygosity present a ciliopathy-like phenotype characterized by a curved body, visible from 2 dpf; (c) Normal larvae head at 5 dpf; (d) disruption of cartilage structures were evident by 5 dpf, with mutant larvae presenting shorter head length along the anterior-posterior axis; (e,f) To quantify the phenotype, alcian blue staining was performed in wild-type and mutants, respectively; (g), and cartilage patterning was quantified according to scheme; (h) Statistical analysis showed that measurements 1–3 and 5–7 showed a significant difference between wild-type and mutant larvae (*p < 0.01) (mutant, n = 11; wild-type, n = 14).

Acknowledgments
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