PUBLICATION
Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development
- Authors
- Gath, N., Gross, J.M.
- ID
- ZDB-PUB-190501-7
- Date
- 2019
- Source
- Developmental Dynamics : an official publication of the American Association of Anatomists 248(7): 514-529 (Journal)
- Registered Authors
- Gath, Natalie, Gross, Jeffrey
- Keywords
- coloboma, cornea, eye, lens, mab21l2, zebrafish
- MeSH Terms
-
- Animals
- Lens, Crystalline
- Morphogenesis
- Eye Proteins/genetics*
- Homeodomain Proteins/genetics*
- Cornea
- Zebrafish Proteins/genetics*
- Eye/embryology
- Eye/growth & development*
- Zebrafish/anatomy & histology
- Zebrafish/embryology
- Eye Abnormalities/genetics*
- Mutant Proteins/genetics
- Embryonic Development
- PubMed
- 31037784 Full text @ Dev. Dyn.
Citation
Gath, N., Gross, J.M. (2019) Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development. Developmental Dynamics : an official publication of the American Association of Anatomists. 248(7):514-529.
Abstract
Background Mutations in MAB21L2 result in severe ocular defects including microphthalmia, anophthalmia, coloboma, microcornea, and cataracts. The molecular and cellular underpinnings of these defects are unknown, as is the normal cellular function of MAB21L2. Zebrafish mab21l2au10 mutants possess ocular defects resembling those in humans with MAB21L2 mutations, providing an excellent model to characterize mab21l2 functions during eye development.
Results mab21l2 -/- mutants possessed a host of ocular defects including microphthalmia and colobomas as well as small, disorganized lenses and cornea dysgenesis. Decreased proliferation, increased cell death, and defects in marker gene expression were detected in the lens. Cell death in the optic stalk was elevated in mab21l2 -/- mutants and the basement membrane between the edges of the choroid fissure failed to break down. Neuronal differentiation in the retina was normal, however. mab21l2 -/- mutant corneas were disorganized, possessed an increased number of cells, some of which proliferated ectopically, and failed to differentiate the corneal stroma.
Conclusions mab21l2 function is required for morphogenesis and cell survival in the lens and optic cup, and basement membrane breakdown in the choroid fissure. mab21l2 function also regulates proliferation in the lens and cornea; in its absence, the lens is small and mispatterned, and corneal morphogenesis and patterning are also disrupted. This article is protected by copyright. All rights reserved.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping