kcnma1 Phenotypes

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Phenotypes

Gene Literature (93)

Nucleotides (169)

Interactants (132)

XB-GENEPAGE-922335

Gene Symbol: kcnma1 Gene Name: potassium calcium-activated channel subfamily M alpha 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (19 sources): Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Cerebellar atrophy, Chorea, Dyskinesia, EEG abnormality, EEG with spike-wave complexes (>3.5 Hz), Esotropia, Generalized hypotonia, Generalized non-motor (absence) seizure, Generalized-onset seizure, Global developmental delay, Intellectual disability, borderline, Myopia, Nystagmus, Paroxysmal dyskinesia, Poor speech, Reduced ejection fraction, Seizure [+]
Mouse (32 sources): Deiters cell degeneration, abnormal action potential, abnormal channel response, abnormal cochlear IHC afferent innervation pattern, abnormal cochlear inner hair cell physiology, abnormal cochlear nerve fiber response, abnormal distortion product otoacoustic emission, abnormal ear morphology, abnormal eye blink conditioning behavior, abnormal feces composition, abnormal hearing electrophysiology, abnormal locomotor behavior, abnormal motor capabilities/coordination/movement, abnormal muscle contractility, abnormal postnatal growth, abnormal spleen weight, absent distortion product otoacoustic emissions, cochlear outer hair cell degeneration, decreased litter size, decreased susceptibility to noise-induced hearing loss, impaired ability to fire action potentials, impaired swimming, increased apoptosis, increased blinking frequency, increased muscle relaxation, increased susceptibility to noise-induced hearing loss, increased synaptic depression, increased systemic arterial blood pressure, premature death, sensorineural hearing loss, short stride length, unidirectional circling [+]
View all ortholog results at Monarch