ZFIN ID: ZDB-PUB-190501-7
Zebrafish mab21l2 mutants possess severe defects in optic cup morphogenesis, lens and cornea development
Gath, N., Gross, J.M.
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
  • Cornea
  • Embryonic Development
  • Eye/embryology
  • Eye/growth & development*
  • Eye Abnormalities/genetics*
  • Eye Proteins/genetics*
  • Homeodomain Proteins/genetics*
  • Lens, Crystalline
  • Morphogenesis
  • Mutant Proteins/genetics
  • Zebrafish/anatomy & histology
  • Zebrafish/embryology
  • Zebrafish Proteins/genetics*
PubMed: 31037784 Full text @ Dev. Dyn.
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.
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.
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.