- Title
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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). |