Symbol
Name
ID

Kcnma1
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
MGI:99923

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Chorea

Paroxysmal dyskinesia

EEG with spike-wave complexes (>3.5 Hz)

Intellectual disability, borderline

Brisk reflexes

Global developmental delay

Seizure

Bilateral tonic-clonic seizure

Bilateral tonic-clonic seizure with generalized onset

Generalized non-motor (absence) seizure

Generalized-onset seizure

Generalized myoclonic seizure

Disease(s) Associated with KCNMA1

idiopathic generalized epilepsy

paroxysmal nonkinesigenic dyskinesia 3

Mouse Phenotypes		abnormal cochlear IHC afferent innervation pattern	cochlear outer hair cell degeneration	abnormal cochlear inner hair cell physiology	abnormal cochlear nerve fiber response	abnormal action potential	impaired ability to fire action potentials	increased synaptic depression	abnormal channel response
Availability	Mouse Genotype	abnormal cochlear IHC afferent innervation pattern	cochlear outer hair cell degeneration	abnormal cochlear inner hair cell physiology	abnormal cochlear nerve fiber response	abnormal action potential	impaired ability to fire action potentials	increased synaptic depression	abnormal channel response
	Kcnma1^tm1Ruth/Kcnma1^tm1Ruth
	Kcnma1^tm1Rwa/Kcnma1^tm1Rwa

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23