ReviewHuman genetics2019
Mouse models for microphthalmia, anophthalmia and cataracts.
Review in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Loss of cyclase-associated protein 2 alters actin cytoskeleton organization and biomechanical properties of the ocular lens.Journal of cell science · 2026Article
- Characterization of a spontaneous microphthalmia-like mutant mouse with isolated ocular defects.PloS one · 2026Article
- Cyclase associated actin cytoskeleton regulatory protein 2 (CAP2) organizes the actin cytoskeleton to influence the biomechanical properties of the ocular lens.bioRxiv : the preprint server for biology · 2025Article
- Frem2 knockout mice exhibit Fraser syndrome phenotypes and neonatal lethality due to bilateral renal agenesis.Scientific reports · 2025Article
- Article
- Depth and Strain-Dependent Structural Responses of Mouse Lens Fiber Cells During Whole Lens Shape Changes.Investigative ophthalmology & visual science · 2025Article
- Systematic review:Frontiers in medicine · 2025Review
- Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.bioRxiv : the preprint server for biology · 2024Article
- Bibliometric analysis of microphthalmos and anophthalmos over 20 years: from 2004 to 2023.International journal of ophthalmology · 2024Article
- Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.Frontiers in cellular neuroscience · 2024Article
- Aquaporins contribute to vacuoles formation in Nile grass type II diabetic rats.Medical molecular morphology · 2023Article
- Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.G3 (Bethesda, Md.) · 2023Article
- Article
- Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.American journal of medical genetics. Part A · 2022Article
- Porcn is essential for growth and invagination of the mammalian optic cup.Frontiers in cell and developmental biology · 2022Article
- Biallelic Deletion ofInternational journal of molecular sciences · 2019Article
- Through the looking glass: eye anomalies in the age of molecular science.Human genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mouse mutants are a long-lasting, valuable tool to identify genes underlying eye diseases, because the absence of eyes, very small eyes and severely affected, cataractous eyes are easily to detect without major technical equipment. In mice, actually 145 genes or loci are known for anophthalmia, 269 for microphthalmia, and 180 for cataracts. Approximately, 25% of the loci are not yet characterized; however, some of the ancient lines are extinct and not available for future research. The phenotypes of the mutants represent a continuous spectrum either in anophthalmia and microphthalmia, or in microphthalmia and cataracts. On the other side, mouse models are still missing for some genes, which have been identified in human families to be causative for anophthalmia, microphthalmia, or cataracts. Finally, the mouse offers the possibility to genetically test the roles of modifiers and the role of SNPs; these aspects open new avenues for ophthalmogenetics in the mouse.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.