FIGURE

Fig. S7

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ZDB-FIG-140811-31

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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Fig. S7

Verification of dominant-negative mutations. (A-B) While co-injection of 3ng of bbs1 MO and 100pg of WT human mRNA rescues the morphant phenotype, coinjection of 100pg of BBS1 mRNA encoding the dominant negative mutation, L518Q produces defects similar to, or more severe than, MO-alone. (B) Further, injection of an equimolar amount of mutant and WT mRNA (50pg each) attenuates the ability of 50pg of the WT mRNA alone to partially rescue the morphant phenotype. (C-E) This was also the case for other dominant negative mutations tested in BBS2 and BBS6. Further investigation of dominant negative alleles revealed that, when mutant mRNA is injected at a suboptimal concentration (i.e. one producing minimal defects when used for WT mRNA), BBS4 (F) and BBS6 (G) alleles produce significantly deleterious effects.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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