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Hydrocephalus in the Otx2+/- mutant mouse
Y Makiyama1, S Shoji, H Mizusawa
1Laboratory of Molecular Oncology, Tsukuba Life Science Center, Institute of Physical and Chemical Research (RIKEN), Ibaraki, Japan.
Abstract:
Mice with the Otx2+/- mutation often die during the postneonatal period. Before death these animals, generated from TT2 ES cells and crossed with CBA mice, develop a dome-shaped head, weakness of the limbs, kyphosis, lethargy, drowsiness, and emaciation. Autopsy of these mice revealed eminent dilatation of lateral ventricles and a ballooned cerebrum. Histological analysis shows edematous change of the periventricular white matter. These results suggest that Otx2 functions as a head organizer, and a mutation of this gene is a likely cause of hydrocephalus in mammals. Additionally, craniobasal skeletal anomaly in half of the heterozygotes and dwarfism in some of the female heterozygotes are described.
Insights
Otx2 gene mutations in mice cause severe developmental issues, including hydrocephalus and skeletal abnormalities. This research highlights Otx2
Area of Science:
- Developmental Biology
- Genetics
- Neuroscience
Background:
- The Otx2 gene is crucial for embryonic development, particularly in the head region.
- Mutations in developmental genes can lead to severe congenital abnormalities.
Purpose of the Study:
- To investigate the role of the Otx2 gene in mammalian head development.
- To characterize the phenotypic consequences of Otx2 mutations.
Main Methods:
- Generation of Otx2+/- mutant mice using TT2 ES cells crossed with CBA mice.
- Clinical observation and autopsy of affected animals.
- Histological analysis of brain tissue.
Main Results:
- Otx2+/- mice exhibit hydrocephalus, characterized by dilated lateral ventricles and a ballooned cerebrum.
- Histology revealed edematous changes in periventricular white matter.
- Associated phenotypes include craniobasal skeletal anomalies and dwarfism in some females.
Conclusions:
- Otx2 functions as a critical head organizer during development.
- Otx2 gene mutation is a likely cause of hydrocephalus in mammals.
- Otx2+/- mutation leads to a spectrum of developmental defects affecting the brain and skeleton.