- Title
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Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease
- Authors
- Laurell, T., Nilsson, D., Hofmeister, W., Lindstrand, A., Ahituv, N., Vandermeer, J., Amilon, A., Annerén, G., Arner, M., Pettersson, M., Jäntti, N., Rosberg, H.E., Cattini, P.A., Nordenskjöld, A., Mäkitie, O., Grigelioniene, G., Nordgren, A.
- Source
- Full text @ Mol Genet Genomic Med
Knockdown of FGF16 results in reduced fins and heart malformations. Zebrafish embryos at 4 days post fertilization (dpf). Dorsal views of the head are shown in A–C and lateral views in E–F. Rostral is to the left in A–G. Injection of fgf16 splice blocking morpholino (sbMO) results in a severe reduction in fins (filled arrowheads in B, C) compared to uninjected control embryos (A) and in addition, embryos injected with fgf16 MO also show edema of the heart (filled arrow; E and F; sbMO shown) compared to uninjected embryos (E). Knockdown of the transcript was confirmed via sequencing of RT-PCR products (G). sbMO binding results in cryptic splice donor site leading to the deletion of 16 bp at the end of exon 2. PHENOTYPE:
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Unillustrated author statements PHENOTYPE:
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