Mouse Models of Coloboma in the MICRON Literature

About the MICRON Research Literature

These research pages organize published studies using MICRON imaging systems by animal species and the disease or condition investigated.

All publication counts and figures reflect the complete indexed research collection.

Explore related studies through the MICRON Research Hubs or search the complete publication collection in the reSEARCH portal.

Understanding Coloboma

Coloboma is a congenital gap in ocular tissue, left where the optic fissure fails to close. The fissure is a transient seam on the ventral side of the developing optic cup and stalk, through which the hyaloid vessels enter and which closes during a defined window of embryonic development, so a defect of this origin lies along the line the seam ran, described in clinical practice as inferonasal.

Which tissues are absent depends on where along that seam closure failed. Iris, ciliary body, choroid, retina and the optic nerve head can each be involved, alone or in combination.

Coloboma occurs in isolation and within syndromic and chromosomal disorders, and it often occurs together with a small globe; the two arise from overlapping steps of optic-cup and optic-fissure morphogenesis.

Coloboma in Experimental Research

What an animal model supplies is access to the closure event itself: in a person the fissure opens and shuts before birth, so what can be examined is its outcome, whereas in an animal the genes, cell behaviors and timing that govern closure can be perturbed as closure occurs, and the eye that results then followed in the living animal.

What it does not supply is the human visual consequence, which turns on whether the defect reaches the optic nerve head and the central retina and is established by acuity and visual-field testing. Mice have no macula and cannot report what they see, so neither that question nor its measurement has a direct counterpart, and a defect occupying one sector can leave a functional measure that sums across the whole retina little changed.

Mouse Models of Coloboma

The mouse carries most of this work.

Transgenic and knockout lines allow a pathway to be removed or overexpressed, and cost, availability, short generation time and a large body of background data reinforce the choice.

A genetic manipulation constrains rather than isolates a mechanism: developmental compensation and pleiotropy remain possible.

Published MICRON Research: Coloboma in Mice

This page lists 5 papers from the MICRON literature, published 2015 to 2025, that study coloboma in mice.

Of these publications:

• 5 studies used mice as the primary coloboma disease model.

Scope of the literature collection: Publication counts reflect studies identified and indexed in the MICRON research corpus. This collection is not intended to represent an exhaustive review of all published coloboma research.

Which imaging and experimental techniques are used in these studies?

Technique counts are paper-level co-occurrences and do not necessarily indicate that a technique was applied to the focal species or focal disease model.

Capabilities and Limitations of Imaging Techniques

A summary of what each imaging technique listed above can measure, the information it provides, and its limitations in research applications.

Optical Coherence Tomography

Optical coherence tomography provides high-resolution, cross-sectional images of ocular tissues in the living eye, allowing researchers to visualize structures at different depths. OCT is particularly useful for measuring tissue thickness, identifying structural abnormalities, and assessing the location and extent of tissue changes.

As a non-invasive imaging technique, OCT enables repeated measurements in the same eye over time, supporting longitudinal studies of disease progression and treatment response. Although OCT provides detailed structural information, it does not directly measure cellular activity or visual function. Tissue that appears structurally normal may still have functional abnormalities, making OCT a valuable companion to functional assessments such as electroretinography (ERG).

Electroretinography

Records the retina's electrical response to light, giving component-sensitive information about outer- and inner-retinal function. It measures function directly, which no structural method does. Full-field ERG sums across the whole retina, so a small lesion can leave the trace unchanged; focal and multifocal variants trade signal amplitude for spatial resolution.

Optokinetic / Optomotor Response

Measures a reflexive head or eye movement tracking a moving pattern, giving a rapid, training-free behavioral estimate of spatial vision and contrast sensitivity in an animal that cannot report them. It is driven largely by reflex circuitry and reports on the visual pathway as a whole, so a deficit it detects still has to be localized by a structural or electrophysiological method, or separated from cortical processing by an operant task.

Topical Ophthalmic Drug Delivery

A compound applied as drops to the ocular surface. It is non-invasive and repeatable, so it supports frequent dosing without a procedure for each dose. What the route has to establish depends on the target: for an ocular-surface target, residence time and penetration into the surface tissue are the main barriers; for an intraocular anterior-segment target, the compound must cross ocular-surface and corneal or conjunctival barriers and reach an intraocular concentration sufficient for the experiment; for a posterior-segment target, additional ocular barriers separate the surface from the target and posterior-segment exposure is harder to establish.

Which MICRON systems and add-ons appear?

Which strains and genetic lines are used?

What other conditions are recorded on the same papers?

Which MICRON configurations appear in this work?

Configurations recorded in these papers, and the techniques recorded alongside them.

The papers

Browse all hubs at MICRON Research Hubs. The full corpus is searchable in the reSEARCH portal.