Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
SUBMITTER: Jimi Wills
LAB HEAD: Ian Jackson
PROVIDER: PXD017091 | Pride | 2020-03-19
REPOSITORIES: Pride
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Cross Sally H SH Mckie Lisa L Hurd Toby W TW Riley Sam S Wills Jimi J Barnard Alun R AR Young Fiona F MacLaren Robert E RE Jackson Ian J IJ
PLoS genetics 20200401 4
The precise control of eye size is essential for normal vision. TMEM98 is a highly conserved and widely expressed gene which appears to be involved in eye size regulation. Mutations in human TMEM98 are found in patients with nanophthalmos (very small eyes) and variants near the gene are associated in population studies with myopia and increased eye size. As complete loss of function mutations in mouse Tmem98 result in perinatal lethality, we produced mice deficient for Tmem98 in the retinal pigm ...[more]