Phenotypes associated with this allele

• Allele Symbol: Cacna1a^tg-4J
• Allele Name: tottering 4 Jackson
• Allele ID: MGI:2155892
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna1a^tg-4J/Cacna1a^tg-4J	B6.C3Bir-Cacna1a^tg-4J	MGI:3803742

Genotype
MGI:3803742

hm1

• Allelic Composition: Cacna1a^tg-4J/Cacna1a^tg-4J
• Genetic Background: B6.C3Bir-Cacna1a^tg-4J

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

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:137816 )

• paroxysmal dyskinesia

ataxia ( J:137816 )

• gait has pronounced high-stepping, waggling movements

absence seizures ( J:137816 )

• EEG recordings indicate spike wave discharges lasting up to 1.8 s and occurring an average of four times per hour

• seizures are accompanied by behavioral arrest

• seizures are abolished by treatment with ethosuximide

nervous system

absence seizures ( J:137816 )

• EEG recordings indicate spike wave discharges lasting up to 1.8 s and occurring an average of four times per hour

• seizures are accompanied by behavioral arrest

• seizures are abolished by treatment with ethosuximide

abnormal Purkinje cell axon morphology ( J:137816 )

• axonal swelling is observed in Purkinje cells

abnormal Purkinje cell dendrite morphology ( J:137816 )

• slight thickening of secondary dendrites

decreased Purkinje cell size ( J:137816 )

• Purkinje neuron cell bodies are smaller than control

abnormal nervous system electrophysiology ( J:137816 )

• current amplitude and capacitance, but not density, are reduced in Purkinje cells

• calcium channel voltage dependent activation is shifted toward more depolarized potentials