kcnb1 Phenotypes

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Phenotypes

Gene Literature (108)

Nucleotides (62)

Interactants (83)

XB-GENEPAGE-982936

Gene Symbol: kcnb1 Gene Name: potassium channel, voltage gated Shab related subfamily B, member 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (51 sources): Abnormal corpus callosum morphology, Abnormal involuntary eye movements, Abnormal myelination, Abnormality of coordination, Abnormality of vision, Absent speech, Ataxia, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Brain atrophy, Cerebral atrophy, Decreased fetal movement, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High forehead, Hypodontia, Hyporeflexia, Hypotonia, Hypsarrhythmia, Impulsivity, Intellectual disability, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Myoclonus, Nystagmus, Optic atrophy, Poor head control, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Spasticity, Status epilepticus, Tremor, Unsteady gait [+]
Mouse (17 sources): abnormal cone electrophysiology, abnormal lean body mass, abnormal locomotor activation, abnormal locomotor behavior, abnormal mean corpuscular hemoglobin, abnormal mean corpuscular volume, abnormal pancreatic beta cell physiology, abnormal rod electrophysiology, decreased total retina thickness, improved glucose tolerance, increased exploration in new environment, increased insulin secretion, increased lean body mass, increased mean corpuscular hemoglobin, short photoreceptor inner segment, short photoreceptor outer segment, thin retina outer nuclear layer [+]
View all ortholog results at Monarch