Abstract
Megencephaly, enlarged brain, occurs in several acquired and inherited human diseases including Sotos syndrome, Robinow syndrome, Canavan’s disease, and Alexander disease. This defect can be distinguished from macrocephaly, an enlarged head, which usually occurs as a consequence of congenital hydrocephalus. The pathology of megencephaly in humans has not been well defined, nor has the defect been reported to occur spontaneously in any other species. In this report we describe a recessive mutation in the mouse that results in a 25% increase in brain size in the first 8 months of life. We have determined that the megencephaly is characterized by overall hypertrophy of the brain, and not by hyperplasia of particular cell types or by hypertrophy of a singular tissue compartment. Edema and hydrocephalus are absent. This mutation has been mapped to mid-distal mouse Chromosome (Chr) 6 in a region homologous with human Chr 12.
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Donahue, L.R., Cook, S.A., Johnson, K.R. et al. Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain. Mammalian Genome 7, 871–876 (1996). https://doi.org/10.1007/s003359900259
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DOI: https://doi.org/10.1007/s003359900259