FIGURE

Fig. 4

ID

ZDB-FIG-131205-11

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. 4

Reevaluation of genetic data using in vivo scoring. Effects of mutations based on in vivo analyses suggest that the severity of BBS mutations is consistent with segregation of disease in families with BBS. (A) Although the heterozygous nonsense BBS1 mutation Q128X present in the individual who has BBS in family AR186 is functionally null (B and C), its presence does not fully account for the disease. (B and C) Affected individual, however, is also homozygous for the BBS2 polymorphism, I123V, predicted to be a mild hypomorph. (D) Injection of either bbs1 or bbs2 MO alone at suboptimal concentrations results in mildly affected embryos. Coinjection of both MOs together produces severely affected embryos with phenotypes not seen by injection of either MO alone, including near-complete loss of somite definition (labeled by myoD) and loss of eye field (labeled by pax2).

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	WT + MO1-bbs1 WT + MO3-bbs2 WT + MO1-bbs1 + MO3-bbs2
Knockdown Reagents:	MO1-bbs1 MO3-bbs2
Observed In:	notochord optic vesicle somite whole organism whole organism anterior-posterior axis
Stage Range:	5-9 somites to 10-13 somites

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Proc. Natl. Acad. Sci. USA