Phenotypes Associated with This Genotype

Genotype
MGI:4358337

• Allelic Composition: Cacna2d2^du/Cacna2d2^du
• Genetic Background: TKDU/DnJ

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

behavior/neurological

induced hyperactivity ( J:5263 )

• homozygotes are hyperexcitable by 10 days of age

seizures ( J:5263 )

• appear at approximately 10 days of age

growth/size/body

postnatal growth retardation ( J:5263 )

• evident by 10 days of age

nervous system

nervous system phenotype ( J:43719 , J:70845 )

N • myelin formation, as assessed by semithin sections and electron microscopy, is normal in the optic nerve, corpus callosum, and spinal cord (J:43719)

N • at 21 days of age there is no loss of cell bodies in the Purkinje cell layer or granule layer (J:70845)

seizures ( J:5263 )

• appear at approximately 10 days of age

decreased brain weight ( J:5263 )

• the brain down through the foramen magnum weighs less than normal, primarily because of the lower weight of the hindbrain and spinal cord portion

abnormal spinal cord white matter morphology ( J:43719 )

• spinal cord white matter has fewer small diameter axons

abnormal myelination ( J:5263 )

• there is a cerebroside deficiency in the central nervous system at 15 days of age and it is more pronounced in the hindbrain and spinal cord segment at all timepoints assessed from 18 to 57 days of age

• cerebroside synthesis is delayed in the hindbraind and spinal cord segment by at least 1 week to 10 days

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:5263 )

N • protein bound iodine levels in serum are normal indicating normal thyroid function

homeostasis/metabolism

abnormal enzyme/coenzyme activity ( J:5175 )

• non-specific esterases of liver and kidney show developmental changes that differ from normal

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic generalized epilepsy		DOID:1827	OMIM:600669	J:70845