FIGURE SUMMARY
Title

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Authors
Gueneau, L., Fish, R.J., Shamseldin, H.E., Voisin, N., Tran Mau-Them, F., Preiksaitiene, E., Monroe, G.R., Lai, A., Putoux, A., Allias, F., Ambusaidi, Q., Ambrozaityte, L., Cimbalistienė, L., Delafontaine, J., Guex, N., Hashem, M., Kurdi, W., Jamuar, S.S., Ying, L.J., Bonnard, C., Pippucci, T., Pradervand, S., Roechert, B., van Hasselt, P.M., Wiederkehr, M., Wright, C.F., DDD Study, Xenarios, I., van Haaften, G., Shaw-Smith, C., Schindewolf, E.M., Neerman-Arbez, M., Sanlaville, D., Lesca, G., Guibaud, L., Reversade, B., Chelly, J., Kučinskas, V., Alkuraya, F.S., Reymond, A.
Source
Full text @ Am. J. Hum. Genet.

kiaa1109 Knockdown in Zebrafish Results in Phenotypes Reminiscent of Probands’ Clinical Features

(A) Lateral views representing the four classes of observed phenotypes in 2 dpf TU zebrafish embryos injected with sbE4-MO (morpholino) targeting kiaa1109: from top left to bottom right, normal, hydrocephalic or other head defects, curved and curved with head defect.

(B) Results for uninjected embryos (left) and those injected with equivalent amounts of standard control MO (center) or kiaa1109 sbE4-MO (6.7 ng, right). Phenotyping and scoring were performed at 2 dpf in two independent experiments.

(C) Results for uninjected embryos (left) and those injected with equivalent amounts of standard control MO (center) or kiaa1109 sbE2-MO (16.9 ng, right). Phenotyping and scoring were performed at 2 dpf in two independent experiments.

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Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Am. J. Hum. Genet.