Phenotypes Associated with This Genotype

Genotype
MGI:3833393

• Allelic Composition: Tg(Thy1-SERPINI1*G392E)333Icka/Tg(Thy1-SERPINI1*G392E)333Icka
• Genetic Background: involves: C57BL * CD-1 * DBA

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

increased susceptibility to pharmacologically induced seizures ( J:144649 )

• kainate-treated mice exhibit decreased latency to seizure and increased seizure stage compared to similarly treated wild-type mice

abnormal neuron morphology ( J:144649 )

• at 10 months, neurons have abnormally ballooned structures unlike in wild-type mice

• the reticulum and lysosomes of neurons in the neocortex, thalamus, amygdala, pons, and spinal cord accumulate the mutant protein unlike in heterozygous mice or mice expressing the wild-type human protein

behavior/neurological

increased susceptibility to pharmacologically induced seizures ( J:144649 )

• kainate-treated mice exhibit decreased latency to seizure and increased seizure stage compared to similarly treated wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial encephalopathy with neuroserpin inclusion bodies		DOID:0050831	OMIM:604218	J:144649