May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Multigenic Heteroygous Mutations in Bbs1/bbs7 Result in Pathogenic Phenotypes in Mice
Author Affiliations & Notes
  • A. R. Philp
    University of Iowa, Iowa City, Iowa
    Ophthalmology,
    Howard Hughes Medical Institute,
  • Q. Zhang
    University of Iowa, Iowa City, Iowa
    Howard Hughes Medical Institute,
    Pediatrics,
  • R. F. Mullins
    University of Iowa, Iowa City, Iowa
    Ophthalmology,
  • C. Searby
    University of Iowa, Iowa City, Iowa
    Howard Hughes Medical Institute,
    Pediatrics,
  • D. Y. Nishimura
    University of Iowa, Iowa City, Iowa
    Howard Hughes Medical Institute,
    Pediatrics,
  • B. Yang
    University of Iowa, Iowa City, Iowa
    Obstetrics and Gynecology,
  • E. M. Stone
    University of Iowa, Iowa City, Iowa
    Ophthalmology,
    Howard Hughes Medical Institute,
  • V. C. Sheffield
    University of Iowa, Iowa City, Iowa
    Howard Hughes Medical Institute,
    Pediatrics,
  • Footnotes
    Commercial Relationships  A.R. Philp, None; Q. Zhang, None; R.F. Mullins, None; C. Searby, None; D.Y. Nishimura, None; B. Yang, None; E.M. Stone, None; V.C. Sheffield, None.
  • Footnotes
    Support  HHMI and FFB
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 2211. doi:https://doi.org/
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    • Get Citation

      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. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : We sought to determine if pathology characteristic of Bardet-Biedl syndrome may result from multigenic interactions between Bbs1 and Bbs7 in mice.

Methods: : 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.

Results: : 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.

Conclusions: : 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.

Keywords: electroretinography: non-clinical • retinal degenerations: hereditary • immunohistochemistry 
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