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Disease Data for CACNA2D2

Basic Information

Gene Taxonomy:

UniprotID:

Q9NY47

Mouse Homolog:

Cacna2d2

Pharos Link:

Knockout Mouse Phenotype:

Purkinje cell degeneration

hindlimb paralysis

premature death

impaired coordination

Abnormal neuron morphology

decreased body size

Impaired proprioception

reduced fertility

abnormal axon morphology

abnormal neuron physiology

decreased neuron number

decreased survivor rate

Gait disturbance

abnormal ventral spinal root morphology

nervous system phenotype

decreased Purkinje cell number

decreased spinal cord size

abnormal spike wave discharge

abnormal Purkinje cell morphology

abnormal locomotor behavior

abnormal motor capabilities/coordination/movement

abnormal heart rate

abnormal involuntary movement

Decreased body weight

Abnormal motor neuron morphology

Abnormality of the pituitary gland

Abnormal myelination

Abnormality of the spinal cord

Absence seizures

Abnormal enzyme/coenzyme activity

Hypoplasia of the thymus

Cerebellar dysplasia

Failure to thrive

Abnormal eating behavior

Cerebellar vermis hypoplasia

Female infertility

Abnormal nervous system electrophysiology

Abnormality of the medulla oblongata

Abnormality of movement

abnormal hindbrain development

no abnormal phenotype detected

postnatal lethality

incomplete penetrance

abnormal CNS synaptic transmission

absent corpus luteum

endocrine/exocrine gland phenotype

small cerebellum

reduced male fertility

reduced female fertility

reproductive system phenotype

abnormal spinal cord white matter morphology

behavioral arrest

decreased brain weight

increased susceptibility to pharmacologically induced seizures

abnormal brain wave pattern

decreased neurotransmitter release

abnormal neuromuscular synapse morphology

abnormal uterus morphology

abnormal vertebral column morphology

abnormal thymus involution

induced hyperactivity

abnormal miniature endplate potential

abnormal spinal nerve morphology

short vertebral body

abnormal sexual interaction

abnormal miniature inhibitory postsynaptic currents

abnormal glial cell physiology

axonal dystrophy

skeletal muscle hypoplasia

abnormal CNS glial cell morphology

absent lactotrophs

abnormal dorsal spinal root morphology

decreased pons size

Abnormality of hindbrain morphology

Monogenic Disease Association:

Polygenic Disease Association:

absence epilepsy

epileptic encephalopathy

10K Immunome:

SARS-CoV-2 Association:

SARS-CoV-2 Vaccine Association: