Epileptic Seizures Caused by Inactivation of a Novel Gene, Jerky, Related to Centromere Binding protein-B in Transgenic Mice

Nat Genet. 1995 Sep;11(1):71-5. doi: 10.1038/ng0995-71.

Abstract

Epidemiological data and genetic studies indicate that certain forms of human epilepsy are inherited. Based on the similarity between the human and mouse genomes, mouse models of epilepsy could facilitate the discovery of genes associated with epilepsy syndromes. Here, we report an insertional murine mutation that inactivates a novel gene and results in whole body jerks, generalized clonic seizures, and epileptic brain activity in transgenic mice. The gene, named jerky, encodes a putative 41.7 kD protein displaying homology to a number of nuclear regulatory proteins, suggesting that perhaps the jerky protein is able to bind DNA.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brain Chemistry
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • DNA-Binding Proteins / physiology
  • Disease Models, Animal
  • Epilepsy, Tonic-Clonic / genetics*
  • Epilepsy, Tonic-Clonic / physiopathology
  • Genes*
  • Handling, Psychological
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mice, Neurologic Mutants
  • Mice, Transgenic
  • Molecular Sequence Data
  • Mutagenesis, Insertional
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Nerve Tissue Proteins / physiology
  • Pedigree

Substances

  • DNA-Binding Proteins
  • Nerve Tissue Proteins
  • jrk protein, mouse

Associated data

  • GENBANK/U35730