Phenotypes Associated with This Genotype

Genotype
MGI:8349869

• Allelic Composition: Kcnc1^tm1Emgol/Kcnc1⁺; Tg(Pvalb-tdTomato)15Gfng/0; Tmem163^{Tg(ACTB-cre)2Mrt}/Tmem163⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * C57BL/6NTac * FVB/N

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

behavior/neurological

behavior/neurological phenotype ( J:386140 )

N • normal neonatal motor behaviors (horizontal and vertical screen, cliff avoidance, quadrupedal walking, etc.) at ages P5, P7, P9, P11, P13, and P15

N • normal auditory startle reflex at ages P5, P7, P9, P11, P13, and P15

impaired spatial learning ( J:386140 )

• increased latency to escape in Barnes maze test

impaired spatial working memory ( J:386140 )

• reduced percentage of spontaneous alterations in Y maze test

• normal distance traveled and total number of arm entries in Y maze test

convulsive seizures ( J:386140 )

• spontaneous tonic, clonic and tonic-clonic seizures with loss of consciousness and falls at age P24-48

myoclonus ( J:386140 )

• myoclonic seizure followed by death in some mice at age P24-48

growth/size/body

growth/size/body region phenotype ( J:386140 )

N • normal development (timing of fur appearance, shoulder and head elevation, incisor eruption, eye opening, and ear canal opening) up to age P15

decreased body weight ( J:386140 )

mortality/aging

lethality, complete penetrance ( J:386140 )

• no survival beyond age 122 days

• myoclonic seizure followed by death in some mice at age P24-48

muscle

myoclonus ( J:386140 )

• myoclonic seizure followed by death in some mice at age P24-48

facial muscle spasm ( J:386140 )

• brief diffuse facial jerks during spontaneous seizures at age P24-48

nervous system

nervous system phenotype ( J:386140 )

N • normal number of neocortex interneurons

N • normal electrophysiology in neocortex layer IV excitatory cells

N • normal synaptic neurotransmission in cerebral cortex excitatory and parvalbumin-positive GABAergic fast-spiking interneurons (PV-INs) at age P16-21

convulsive seizures ( J:386140 )

• spontaneous tonic, clonic and tonic-clonic seizures with loss of consciousness and falls at age P24-48

myoclonus ( J:386140 )

• myoclonic seizure followed by death in some mice at age P24-48

decreased brain weight ( J:386140 )

abnormal GABAergic neuron physiology ( J:386140 )

• reduced frequency of action potential trains in response to depolarizing current injection in cerebral cortex parvalbumin-positive GABAergic fast-spiking interneurons (PV-INs)

increased inhibitory postsynaptic current amplitude ( J:386140 )

• in cerebral cortex parvalbumin-positive GABAergic fast-spiking interneurons (PV-INs) at age P32-42

• normal in cerebral cortex excitatory cells at age P32-42

decreased paired-pulse facilitation ( J:386140 )

• in cerebral cortex parvalbumin-positive GABAergic fast-spiking interneurons (PV-INs) at age P32-42

• normal in cerebral cortex excitatory cells at age P32-42

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
developmental and epileptic encephalopathy		DOID:0112202	OMIM:PS308350	J:386140