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Phenotypes Associated with This Genotype
Genotype
MGI:4358337
Allelic
Composition
Cacna2d2du/Cacna2d2du
Genetic
Background
TKDU/DnJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cacna2d2du mutation (1 available); any Cacna2d2 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• homozygotes are hyperexcitable by 10 days of age
• appear at approximately 10 days of age

growth/size/body
• evident by 10 days of age

nervous system
N
• myelin formation, as assessed by semithin sections and electron microscopy, is normal in the optic nerve, corpus callosum, and spinal cord (J:43719)
• at 21 days of age there is no loss of cell bodies in the Purkinje cell layer or granule layer (J:70845)
• appear at approximately 10 days of age
• the brain down through the foramen magnum weighs less than normal, primarily because of the lower weight of the hindbrain and spinal cord portion
• spinal cord white matter has fewer small diameter axons
• 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
N
• protein bound iodine levels in serum are normal indicating normal thyroid function

homeostasis/metabolism
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/18/2022
MGI 6.17
The Jackson Laboratory