Hydrocephalus in the Otx2+/- mutant mouse.
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.
Makiyama
Y
Y
Laboratory of Molecular Oncology, Tsukuba Life Science Center, Institute of Physical and Chemical Research (RIKEN), Ibaraki, Japan.
Shoji
S
S
Mizusawa
H
H
D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics / Q000473:pathology; D000818:Animals; D001835:Body Weight; D004392:Dwarfism / Q000235:genetics / Q000473:pathology; D005314:Embryonic and Fetal Development / Q000235:genetics; D005260:Female; D005804:Genes, Lethal; D005838:Genotype; D013006:Growth Hormone / Q000032:analysis; D006257:Head / Q000196:embryology; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology*; D006849:Hydrocephalus / Q000196:embryology / Q000235:genetics* / Q000473:pathology; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D008817:Mice, Mutant Strains / Q000235:genetics*; D009024:Morphogenesis / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000172:deficiency / Q000235:genetics / Q000502:physiology*; D051857:Otx Transcription Factors; D010641:Phenotype; D012886:Skull / Q000196:embryology / Q000473:pathology; D013100:Sphenoid Bone / Q000196:embryology / Q000473:pathology; D015534:Trans-Activators / Q000172:deficiency / Q000235:genetics / Q000502:physiology*
D018398:Homeodomain Proteins; D009419:Nerve Tissue Proteins; D051857:Otx Transcription Factors; C497660:Otx2 protein, mouse; D015534:Trans-Activators; D013006:Growth Hormone