Phenotypes Associated with This Genotype

Genotype
MGI:3055322

• Allelic Composition: Cacna2d2^tm1Svi/Cacna2d2^tm1Svi
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

mortality/aging

premature death ( J:92396 )

• 46% of mice die prematurely, median lifespan is 150 days

• no obvious cause of death observed

behavior/neurological

abnormal eating behavior ( J:92396 )

• malnutrition, indolent feeding behavior

limb grasping ( J:92396 )

• reflexive hind limb clasping when lifted by tail by four weeks of age

ataxia ( J:92396 )

• ataxic waddling gait by four weeks of age

impaired coordination ( J:92396 )

• poor performance in inverted screen test - average 5.5 seconds

seizures ( J:92396 )

increased susceptibility to pharmacologically induced seizures ( J:92396 )

• increased seizure susceptibility when induced by pentylenetetrazol (PTZ)

myoclonus ( J:92396 )

• sporadic myoclonic jerking of limbs or whole body tremor

tonic seizures ( J:92396 )

• identified at 4 weeks by dystonic episodes, initiated by extension of hindlimbs progressing to full body extension

cardiovascular system

abnormal heart rate ( J:92396 )

• isoflurane administration reduces heart rate less than the reduction in wildtype

decreased heart rate ( J:92396 )

growth/size/body

decreased body weight ( J:92396 )

• 1.5-2 times less than wildtype

postnatal growth retardation ( J:92396 )

• starting at 4 weeks

homeostasis/metabolism

dehydration ( J:92396 )

immune system

thymus hypoplasia ( J:92396 )

• in some cases, thymic atrophy

rhinitis ( J:92396 )

• in some cases, suppurative rhinitis

muscle

myoclonus ( J:92396 )

• sporadic myoclonic jerking of limbs or whole body tremor

respiratory system

rhinitis ( J:92396 )

• in some cases, suppurative rhinitis

nervous system

seizures ( J:92396 )

increased susceptibility to pharmacologically induced seizures ( J:92396 )

• increased seizure susceptibility when induced by pentylenetetrazol (PTZ)

myoclonus ( J:92396 )

• sporadic myoclonic jerking of limbs or whole body tremor

tonic seizures ( J:92396 )

• identified at 4 weeks by dystonic episodes, initiated by extension of hindlimbs progressing to full body extension

abnormal cerebellum morphology ( J:92396 )

• apoptosis in granule cell layers, especially vermis, observed by day 22

Purkinje cell degeneration ( J:92396 )

• Purkinje cell depletion first observed at day 70, most cells gone by 52 weeks

cerebellum vermis hypoplasia ( J:92396 )

hematopoietic system

thymus hypoplasia ( J:92396 )

• in some cases, thymic atrophy

endocrine/exocrine glands

thymus hypoplasia ( J:92396 )

• in some cases, thymic atrophy