vision/eye
• Background Sensitivity: anterior segment phenotype is severe and fully penetrant compared to a variable phenotype on a mixed background containing NMRI
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• the ciliary body is hypotrophic with a lack of ciliary processes at P18
• ciliary body structure lacks well-defined ciliary processes with the pigmented ciliary epithelium (PCE) and non-pigmented ciliary epithelia (NCE) appearing to coalesce
• Background Sensitivity: the ciliary body phenotype is fully penetrant on this background compared to a variable phenotype on a mixed background containing NMRI
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• the iris exhibits a thickened club-like appearance with atrophic sphincter pupillae instead of an elongated oval structure
• the iris is hypotrophic with a lack of iris extension at P18
• Background Sensitivity: the iris phenotype is fully penetrant on this background compared to a variable phenotype on a mixed background containing NMRI
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• seen in P15 mice
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• shorter cornea and reduced curvature of the cornea
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• anterior eye chamber is reduced in volume
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• the ciliary body and iris fail to undergo morphogenesis as indicated by the absence of ciliary processes and lack of iris extension
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• ciliary margin length is shorter at E18.5 and exhibits a reduced rate of progenitor cell proliferation at E18.5
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• posterior eye segment is larger
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
anterior segment dysgenesis | DOID:0060648 |
OMIM:PS107250 |
J:239666 |