The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival | Zendy

Emma M. Lessieur | Zendy; Joseph Fogerty | Zendy; Robert J. Gaivin | Zendy; Ping Song | Zendy; Brian D. Perkins | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival

Author(s) -

Emma M. Lessieur,

Joseph Fogerty,

Robert J. Gaivin,

Ping Song,

Brian D. Perkins

Publication year - 2017

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.16-20326

Subject(s) - zebrafish , biology , cilium , nephronophthisis , ciliopathy , pronephros , microbiology and biotechnology , exocyst , retinal degeneration , retina , anatomy , genetics , phenotype , gene , neuroscience , protein subunit

Joubert syndrome (JBTS) is an autosomal recessive ciliopathy with considerable phenotypic variability. In addition to central nervous system abnormalities, a subset of JBTS patients exhibit retinal dystrophy and/or kidney disease. Mutations in the AHI1 gene are causative for approximately 10% of all JBTS cases. The purpose of this study was to generate ahi1 mutant alleles in zebrafish and to characterize the retinal phenotypes.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research