FIGURE SUMMARY
Title

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)?

Authors
Kruszka, P., Uwineza, A., Mutesa, L., Martinez, A.F., Abe, Y., Zackai, E.H., Ganetzky, R., Chung, B., Stevenson, R.E., Adelstein, R.S., Ma, X., Mullikin, J.C., Hong, S.K., Muenke, M.
Source
Full text @ Mol Genet Genomic Med

Box shows location of missense mutation in IQCK; (A) control morpholino phenotype at 48 h in zebrafish is normal; (B) iqck morpholino at 48 h shows cardiac edema (red arrow) and ventral fin hypoplasia (yellow arrow); (C) coinjection of iqck morpholino and IQCK (hIQCK) mRNA shows rescued phenotype; (D) control human IQCK injection results in normal phenotype; (E) coinjection of iqck morpholino and human Q223E human IQCK mRNA resulting in worsening of phenotype than iqck morpholino alone shown in Figure 6B; (F) human Q223E IQCK mRNA injection shows normal phenotype; (G) coinjection of iqck morpholino and human Q223H human IQCK mRNA resulting failure to rescue phenotype; (H) human Q223H IQCK mRNA injection shows normal phenotype; (I) coinjection of iqck morpholino and human Q222S human IQCK mRNA resulting in a rescued phenotype; (J) human Q222S IQCK mRNA injection shows normal phenotype.

PHENOTYPE:
Fish:
Knockdown Reagent:
Observed In:
Stage: Long-pec
Acknowledgments
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