Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice | Zendy

Viola Kretschmer | Zendy; Sarita Rani Patnaik | Zendy; Friedrich Kretschmer | Zendy; Mira Manilal Chawda | Zendy; Víctor Hernández-Hernández | Zendy; Helen MaySimera | Zendy

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Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice

Author(s) -

Viola Kretschmer,

Sarita Rani Patnaik,

Friedrich Kretschmer,

Mira Manilal Chawda,

Víctor Hernández-Hernández,

Helen MaySimera

Publication year - 2019

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.18-25210

Subject(s) - bardet–biedl syndrome , retinal degeneration , phenotype , biology , degeneration (medical) , knockout mouse , retinal , in vivo , neuroscience , retina , pathology , genetics , medicine , gene , biochemistry

Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function. Insights gained from BBS mouse models are applicable to other syndromic and nonsyndromic retinal diseases. This progressive characterization of the visual phenotype in three BBS mouse models sets a baseline for testing therapeutic interventions.

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