Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities.  Most homozygotes die at birth, less than 1% of homozygotes survive to adulthood.  Survivors remain smaller in size than wildtype controls.  No gene product (protein) is detected by immunoblot analysis of brain tissue from homozygotes.  Homozygotes exhibit hippocampal defects with thinning of the cortex, hippocampal pyramidal cell layer disorganization and neuronal migration abnormalities.  Heterozygotes exhibit less severe hippocampal defects.  Mutants have increased apoptosis in the brain.  This mutant mouse strain may be useful in studies of Miller-Dieker Lissencephaly Syndrome and neuronal migration during brain development.

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Mice carrying this targeted mutation of <i>Ywhae</i> (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide) exhibit hippocampal defects, neuronal migration abnormalities, and increased apoptosis in the brain.  This mutant mouse strain may be useful in studies of Miller-Dieker Lissencephaly Syndrome and neuronal migration during brain development.

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