Fig. S4
- ID
- ZDB-FIG-140811-28
- 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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Rescue of bbs morphants with human BBS mRNA. Translation blocking morpholinos for bbs1-12 were injected into zebrafish embryos and produced early embryonic defects including shortened body axis and abnormal somite and notochord morphology. These defects could be rescued with co-injection of human WT mRNA encoding the respective BBS gene. Co-injection with mRNA baring mutations producing a spectrum of effects ranging from rescue similar to WT rescue, such as BBS6 R518H (R), or partial rescue, as with the Hypomorph BBS1 M390R (C), or lack of rescue, such as the Null BBS10 Y197C (D′), or exacerbation of the phenotype, such as the Dominant negative BBS3 G169A (I). |
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Knockdown Reagents: | |
Observed In: | |
Stage Range: | 5-9 somites to 10-13 somites |