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A. R. Philp, Q. Zhang, R. F. Mullins, C. Searby, D. Y. Nishimura, B. Yang, E. M. Stone, V. C. Sheffield; Multigenic Heteroygous Mutations in Bbs1/bbs7 Result in Pathogenic Phenotypes in Mice. Invest. Ophthalmol. Vis. Sci. 2008;49(13):2211.
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We sought to determine if pathology characteristic of Bardet-Biedl syndrome may result from multigenic interactions between Bbs1 and Bbs7 in mice.
Mice heterozygous for both the Bbs1M390R mutation and the Bbs7 null mutation, were evaluated using: 1) histological and immunohistochemical assessment of the retina; 2) full field electroretinogram (ERG); and 3) body mass analysis. Animals homozygous for the Bbs1M390R or Bbs7 null wild type littermates were also assessed.
A significant reduction is observed in the ERG B-wave of double heterozygous animals compared to wild type and single heterozygotes. In accordance, body mass data suggests a significant increase is observed in double heterozygotes compared to single heterozygotes and wild type littermates.
Double heterozygote animals for Bbs1M390R/7 (null) have abnormalities that suggest a pathology similar to Bardet-Biedl syndrome observed in homozygous knock-in or knock-out animals. This implies that patients who are heterozygous for changes in two specific BBS genes may also manifest some of the symptoms of the disease.
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