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Phenotypes Associated with This Genotype
Genotype
MGI:4437122
Allelic
Composition
Lgi1tm1Mafu/Lgi1tm1Mafu
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lgi1tm1Mafu mutation (0 available); any Lgi1 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
N
• mice exhibit normal paired pulse ratio
• 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
• AMPA to NMDA ratio of AMPAR-mediated synaptic current is decreased compared to in wild-type mice
• the average amplitude of miniature excitatory postsynaptic currents is decreased compared to in wild-type mice
• however, the frequency is normal

growth/size/body
• beginning around P14

behavior/neurological
• 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

Mouse Models of Human Disease
OMIM ID Ref(s)
Epilepsy, Familial Temporal Lobe, 1; ETL1 600512 J:157578


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory