Missense Mutations in the Human Nanophthalmos GeneTMEM98Cause Retinal Defects in the Mouse | Zendy

Sally H. Cross | Zendy; Lisa McKie | Zendy; Margaret Keighren | Zendy; Katrine West | Zendy; Caroline Thaung | Zendy; Tracey Davey | Zendy; Dinesh C. Soares | Zendy; Luis SánchezPulido | Zendy; Ian J. Jackson | Zendy

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Missense Mutations in the Human Nanophthalmos GeneTMEM98Cause Retinal Defects in the Mouse

Author(s) -

Sally H. Cross,

Lisa McKie,

Margaret Keighren,

Katrine West,

Caroline Thaung,

Tracey Davey,

Dinesh C. Soares,

Luis SánchezPulido,

Ian J. Jackson

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.18-25954

Subject(s) - missense mutation , retinal , gene , genetics , biology , mutation , biochemistry

We previously found a dominant mutation, Rwhs, causing white spots on the retina accompanied by retinal folds. Here we identify the mutant gene to be Tmem98. In humans, mutations in the orthologous gene cause nanophthalmos. We modeled these mutations in mice and characterized the mutant eye phenotypes of these and Rwhs.

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