ArticleMammalian genome : official journal of the International Mammalian Genome Society1996
Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 40 citations in OpenAlex.
- Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity ofInternational journal of molecular sciences · 2023Review
- KProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Article
- Kv1.1 channels regulate early postnatal neurogenesis in mouse hippocampus via the TrkB signaling pathway.eLife · 2021Article
- Clinical Spectrum ofInternational journal of molecular sciences · 2020Review
- Potassium Channels in Epilepsy.Cold Spring Harbor perspectives in medicine · 2016Review
- K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.Frontiers in cellular neuroscience · 2013Article
- Kv1.1-dependent control of hippocampal neuron number as revealed by mosaic analysis with double markers.The Journal of physiology · 2012Article
- Evidence for presence and functional effects of Kv1.1 channels in β-cells: general survey and results from mceph/mceph mice.PloS one · 2011Article
- Deciphering the Palimpsest: Studying the Relationship Between Morphological Integration and Phenotypic Covariation.Evolutionary biology · 2009Article
- Structural consequences of Kcna1 gene deletion and transfer in the mouse hippocampus.Epilepsia · 2007Article
- Kv1.1 null mice have enlarged hippocampus and ventral cortex.BMC neuroscience · 2007Article
- A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction.BMC neuroscience · 2005Article
- Transgenic activation of Ras in neurons promotes hypertrophy and protects from lesion-induced degeneration.The Journal of cell biology · 2000Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.