Phenotypes associated with this allele

• Allele Symbol: Cacna2d2^ent
• Allele Name: entla
• Allele ID: MGI:3038918
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Cacna2d2^ent/Cacna2d2^ent	either: B6.D2-Cacna2d2^ent or (involves: C57BL/6J * CD-1 * DBA/2J)	MGI:3039123

Genotype
MGI:3039123

hm1

• Allelic Composition: Cacna2d2^ent/Cacna2d2^ent
• Genetic Background: either: B6.D2-Cacna2d2^ent or (involves: C57BL/6J * CD-1 * DBA/2J)

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

Ataxia, parosysmal dyskinesia, decreased weight and survival, and female infertility in Cacna2d2^ent/Cacna2d2^ent mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:88967 )

• 50% die prior to weaning

• mice that survive to weaning have a normal lifespan

behavior/neurological

abnormal locomotor behavior ( J:88967 )

• mice exhibited episodic paroxysmal dyskinesia several days after onset of ataxia

• episodes of paroxysmal dyskinesia lasted several minutes and were exacerbated by stress

ataxia ( J:88967 )

• developed between postnatal days 13 and 15 and persisted throughout life

abnormal gait ( J:88967 )

• outward pointing of hindlimbs during motion

behavioral arrest ( J:88967 )

abnormal sexual interaction ( J:88967 )

♂ • male mice exhibited low breeding performance

seizures ( J:88967 )

• seizure activity detected by intrahippocampal and cortical EEG electrodes

• seizures lasted 1 to 4 seconds, had a spike wave discharges between 4 and 5 Hz, and occurred 10 to 13 times an hour

• spike wave discharges coincided with behavioral arrest of the mice, characterized by staring and slight head nodding

growth/size/body

decreased body size ( J:88967 )

• evident from postnatal day 10 on

decreased body weight ( J:88967 )

reproductive system

abnormal uterus morphology ( J:88967 )

♀ • dysmorphic uteri with reduced diameter

female infertility ( J:88967 )

♀ • although male mice showed poor breeding performance, they were fertile

nervous system

nervous system phenotype ( J:88967 )

N • in contrast to Cacna2d2^du mice, the overall anatomy of the central nervous system was normal

N • no demyelination

N • normal Purkinje cell morphology

N • normal cerebellar morphology

seizures ( J:88967 )

• seizure activity detected by intrahippocampal and cortical EEG electrodes

• seizures lasted 1 to 4 seconds, had a spike wave discharges between 4 and 5 Hz, and occurred 10 to 13 times an hour

• spike wave discharges coincided with behavioral arrest of the mice, characterized by staring and slight head nodding

abnormal brain wave pattern ( J:88967 )

• cortical and intrahippocampal EEGs demonstrate seizure activity

abnormal neuron physiology ( J:88967 )

• reduced current in Purkinje cells

• normal voltage dependent activation of Purkinje cells