Phenotypes Associated with This Genotype

Genotype
MGI:4440340

• Allelic Composition: Lgi1^tm1.1Jkc/Lgi1^tm1.1Jkc; Tyr^c-Brd/Tyr^c-Brd
• Genetic Background: B6.Cg-Tyr^c-Brd Lgi1^tm1.1Jkc

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

mortality/aging

postnatal lethality, complete penetrance ( J:158715 )

• at 12 to 20 days of age, mice exhibit myoclonic seizures accompanied by rapid jumping and running and die shortly after

nervous system

nervous system phenotype ( J:158715 )

N • mice exhibit normal miniature inhibitory postsynaptic current frequency and amplitude and inhibitory postsynaptic currents

seizures ( J:158715 )

• 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

clonic seizures ( J:158715 )

• 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

enhanced AMPA-mediated synaptic currents ( J:158715 )

• AMPA receptor-mediated excitatory postsynaptic currents are larger than in wild-type mice

enhanced NMDA-mediated synaptic currents ( J:158715 )

• NMDA receptor-mediated excitatory postsynaptic currents are larger than in wild-type mice

increased miniature excitatory postsynaptic current frequency ( J:158715 )

• mice exhibit increased frequency of miniature excitatory postsynaptic currents compared with wild-type mice

growth/size/body

decreased body size ( J:158715 )

• slight in some mice

behavior/neurological

seizures ( J:158715 )

• 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

clonic seizures ( J:158715 )

• 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

abnormal coat/hair pigmentation ( J:158715 )

• mice exhibit cream-colored coats compared to the white-coated C57BL/6-Tyr^c-Brd control mice

abnormal eye pigmentation ( J:158715 )

• mice exhibit dark ruby eyes compared with the pink-eyed C57BL/6-Tyr^c-Brd control mice

vision/eye

abnormal eye pigmentation ( J:158715 )

• mice exhibit dark ruby eyes compared with the pink-eyed C57BL/6-Tyr^c-Brd control mice

integument

abnormal coat/hair pigmentation ( J:158715 )

• mice exhibit cream-colored coats compared to the white-coated C57BL/6-Tyr^c-Brd control mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
familial temporal lobe epilepsy 1		DOID:0060748	OMIM:600512	J:158715