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Phenotypes Associated with This Genotype
Genotype
MGI:4440340
Allelic
Composition
Lgi1tm1.1Jkc/Lgi1tm1.1Jkc
Tyrc-Brd/Tyrc-Brd
Genetic
Background
B6.Cg-Tyrc-Brd Lgi1tm1.1Jkc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lgi1tm1.1Jkc mutation (0 available); any Lgi1 mutation (9 available)
Tyrc-Brd mutation (6 available); any Tyr mutation (366 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• at 12 to 20 days of age, mice exhibit myoclonic seizures accompanied by rapid jumping and running and die shortly after

nervous system
N
• mice exhibit normal miniature inhibitory postsynaptic current frequency and amplitude and inhibitory postsynaptic currents
• mice exhibit an increase in spontaneous epileptiform discharge compared with wild-type mice
• however, firing frequency and spikes as well as resting membrane potential are normal
• at 12 to 20 days of age, mice exhibit myoclonic seizures unlike wild-type mice accompanied by rapid jumping and running and die shortly after
• AMPA receptor-mediated excitatory postsynaptic currents are larger than in wild-type mice
• NMDA receptor-mediated excitatory postsynaptic currents are larger than in wild-type mice
• mice exhibit increased frequency of miniature excitatory postsynaptic currents compared with wild-type mice

growth/size/body
• slight in some mice

behavior/neurological
• mice exhibit an increase in spontaneous epileptiform discharge compared with wild-type mice
• however, firing frequency and spikes as well as resting membrane potential are normal
• at 12 to 20 days of age, mice exhibit myoclonic seizures unlike wild-type mice accompanied by rapid jumping and running and die shortly after

pigmentation
• mice exhibit cream-colored coats compared to the white-coated C57BL/6-Tyrc-Brd control mice
• mice exhibit dark ruby eyes compared with the pink-eyed C57BL/6-Tyrc-Brd control mice

vision/eye
• mice exhibit dark ruby eyes compared with the pink-eyed C57BL/6-Tyrc-Brd control mice

integument
• mice exhibit cream-colored coats compared to the white-coated C57BL/6-Tyrc-Brd control mice

Mouse Models of Human Disease
OMIM ID Ref(s)
Epilepsy, Familial Temporal Lobe, 1; ETL1 600512 J:158715


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory