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Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.

Sally H Cross | Lisa Mckie | Margaret Keighren | Katrine West | Caroline Thaung | Tracey Davey | Dinesh C Soares | Luis Sanchez-Pulido | Ian J Jackson
Investigative ophthalmology & visual science | 2019

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.

Pubmed ID: 31266059

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Associated grants

  • Agency: Medical Research Council, United Kingdom
    Id: MC_PC_U127561112
  • Agency: Medical Research Council, United Kingdom
    Id: MC_UU_00007/15
  • Agency: Medical Research Council, United Kingdom
    Id: MC_UU_00007/4

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