Fig. 1
- ID
- ZDB-FIG-131205-8
- Publication
- Zaghloul et al., 2010 - Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome
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Suppression of BBS4 produces specific defects. (A) Injection of MOs against individual bbs genes (bbs4 shown here) into zebrafish embryos produces gastrulation defects, including a short body axis, a widened and kinked notochord (*), and broadened somites (arrowhead), which can be rescued by WT human mRNA. Coinjections of mutant mRNAs produce a spectrum of defects. (B) Whereas WT RNA rescues the MO phenotypes (WT RNA), coinjection of hypomorphic mutations (N165H) partially rescues the phenotype; however, null mutations (D102G, N274H, and M472V in BBS4) do not rescue, and dominant-negative mutations (L327P) exacerbate the phenotype and produce defects by injection of RNA alone. |
Fish: | |
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Knockdown Reagent: | |
Observed In: | |
Stage Range: | 5-9 somites to 10-13 somites |