Phenotypes Associated with This Genotype

Genotype
MGI:4437122

• Allelic Composition: Lgi1^tm1Mafu/Lgi1^tm1Mafu
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

premature death ( J:157578 )

• all mice die suddenly during the third week after birth

• however, lethality can be rescued by neuron-specific over expression of the wild-type protein

• no mice survive beyond P25

nervous system

nervous system phenotype ( J:157578 )

N • mice exhibit normal paired pulse ratio

seizures ( J:157578 )

• after P14, mice exhibit spontaneous recurrent generalized seizure with sudden onset of wild running and jumping, followed by limb clonus and tonic limb extension unlike wild-type mice

• seizures precede death

• however, the seizure phenotype can be rescued by neuron-specific over expression of the wild-type protein

tonic-clonic seizures ( J:157578 )

abnormal glutamate-mediated receptor currents ( J:157578 )

• AMPA to NMDA ratio of AMPAR-mediated synaptic current is decreased compared to in wild-type mice

decreased miniature excitatory postsynaptic current amplitude ( J:157578 )

• the average amplitude of miniature excitatory postsynaptic currents is decreased compared to in wild-type mice

• however, the frequency is normal

growth/size/body

postnatal growth retardation ( J:157578 )

• beginning around P14

behavior/neurological

seizures ( J:157578 )

• after P14, mice exhibit spontaneous recurrent generalized seizure with sudden onset of wild running and jumping, followed by limb clonus and tonic limb extension unlike wild-type mice

• seizures precede death

• however, the seizure phenotype can be rescued by neuron-specific over expression of the wild-type protein

tonic-clonic seizures ( J:157578 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial temporal lobe epilepsy 1		DOID:0060748	OMIM:600512	J:157578