Phenotypes associated with this allele

• Allele Symbol: Kcnc1^em1Emgol
• Allele Name: endonuclease-mediated mutation 1, Ethan M Goldberg
• Allele ID: MGI:8348402
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kcnc1^em1Emgol/Kcnc1^em1Emgol	C57BL/6J-Kcnc1^em1Emgol	MGI:8349841
ht2	Kcnc1^em1Emgol/Kcnc1^+	C57BL/6J-Kcnc1^em1Emgol	MGI:8349842

Genotype
MGI:8349841

hm1

• Allelic Composition: Kcnc1^em1Emgol/Kcnc1^em1Emgol
• Genetic Background: C57BL/6J-Kcnc1^em1Emgol

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

mortality/aging

postnatal lethality, complete penetrance ( J:378003 )

• no survival beyond weaning

Genotype
MGI:8349842

ht2

• Allelic Composition: Kcnc1^em1Emgol/Kcnc1⁺
• Genetic Background: C57BL/6J-Kcnc1^em1Emgol

behavior/neurological

behavior/neurological phenotype ( J:378003 )

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

limb grasping ( J:378003 )

• hindlimb clasping in tail suspension test at age 6 months

ataxia ( J:378003 )

• tendency to fall in ledge test at age 6 months

• unsteady gait (uncoordinated hind limb stance) in paw print analysis at age 6 months

• reduced latency to fall in accelerating rotarod test at age 6 months

• uncoordinated hind limb stance in elevated beam test at age 6 months

seizures ( J:378003 )

• spontaneous seizures from age 4 months

increased susceptibility to pharmacologically induced seizures ( J:378003 )

• accelerated PTZ-induced kindling at age P30

audiogenic seizures ( J:378003 )

• seizures induced by high-frequency or high-intensity auditory stimuli at age P18-P20

sporadic seizures ( J:378003 )

• brief, mostly nonconvulsive, seizures at age 6 months

growth/size/body

growth/size/body region phenotype ( J:378003 )

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

nervous system

seizures ( J:378003 )

• spontaneous seizures from age 4 months

increased susceptibility to pharmacologically induced seizures ( J:378003 )

• accelerated PTZ-induced kindling at age P30

audiogenic seizures ( J:378003 )

• seizures induced by high-frequency or high-intensity auditory stimuli at age P18-P20

sporadic seizures ( J:378003 )

• brief, mostly nonconvulsive, seizures at age 6 months

abnormal action potential ( J:378003 )

• broadening in cerebellar granule cells (CGCs)

abnormal afterhyperpolarization ( J:378003 )

• prolonged duration in cerebellar granule cells (CGCs)

decreased single cell response intensity ( J:378003 )

• decreased maximum instantaneous and steady-state firing frequency in cerebellar granule cells (CGCs)

impaired synaptic plasticity ( J:378003 )

• less facilitation at parallel-fiber-to-Purkinje-cell synapses at age 6 months

increased synaptic depression ( J:378003 )

• in cerebral cortex parvalbumin-positive GABAergic fast-spiking interneurons (PV-INs) stimulated with 20/40/120 Hz action potentials

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
progressive myoclonus epilepsy 7		DOID:0111447	OMIM:616187	J:378003