Phenotypes Associated with This Genotype

Genotype
MGI:5317116

• Allelic Composition: Lgi1^tm1.1Ics/Lgi1^tm1.1Ics
• Genetic Background: involves: 129S2/SvPas * BALB/c * C57BL/6

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

nervous system

seizures ( J:182795 )

• spontaneous beginning in the second postnatal week (P10), especially during cage changing and handling

environmentally induced seizures ( J:182795 )

• during cage changing and handling

tonic-clonic seizures ( J:182795 )

abnormal spike wave discharge ( J:182795 )

abnormal cerebellum external granule cell layer morphology ( J:182795 )

• increased thickness

abnormal hippocampal mossy fiber morphology ( J:182795 )

• mossy fibers in temporal lobe epilepsies often sprout aberrant recurrent synapses with dentate granule cells

abnormal cerebellar granule cell morphology ( J:182795 )

• abnormal dispersion at P14 after the onset of seizures

• mossy fibers in temporal lobe epilepsies often sprout aberrant recurrent synapses with dentate granule cells

gliosis ( J:182795 )

• at P14 after the onset of seizures, particularly in the hilus of the dentate gyrus

neurodegeneration ( J:182795 )

• following the onset of seizures

abnormal brain wave pattern ( J:182795 )

• mice exhibit ictal epileptic electroencephalogram abnormalities, often bilateral, compared with wild-type mice

growth/size/body

decreased body size ( J:182795 )

• at P14

decreased body weight ( J:182795 )

• at P14

postnatal growth retardation ( J:182795 )

• between P10 and P14

behavior/neurological

aphagia ( J:182795 )

• mice lack stomach contents at death and likely die of dehydration and/or starvation

akinesia ( J:182795 )

• inactive by P14

seizures ( J:182795 )

• spontaneous beginning in the second postnatal week (P10), especially during cage changing and handling

environmentally induced seizures ( J:182795 )

• during cage changing and handling

tonic-clonic seizures ( J:182795 )

abnormal spike wave discharge ( J:182795 )

adipose tissue

decreased total body fat amount ( J:182795 )

• lack of body fact at P14

mortality/aging

postnatal lethality, complete penetrance ( J:182795 )

• mean lifetime of 16 days; no mice survive beyond P21

• mice lack stomach contents at death and likely die of dehydration and/or starvation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial temporal lobe epilepsy 1		DOID:0060748	OMIM:600512	J:182795