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Symbol
Name
ID

Slc9a1
solute carrier family 9 (sodium/hydrogen exchanger), member 1
MGI:102462

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Areflexia of lower limbs

Areflexia of upper limbs

Cerebellar vermis atrophy

Cerebellar atrophy

Ataxia

Dysdiadochokinesis

Dysmetria

Gait ataxia

Limb ataxia

Action tremor

Dysarthria

Motor delay

Delayed ability to walk

Disease(s) Associated with SLC9A1

autosomal recessive spinocerebellar ataxia 19

Mouse Phenotypes

nervous system phenotype

seizures

convulsive seizures

tonic-clonic seizures

absence seizures

Purkinje cell degeneration

abnormal Purkinje cell axon morphology

abnormal cerebellar molecular layer

abnormal cerebellum deep nucleus morphology

abnormal cerebellum dentate nucleus morphology

abnormal axon morphology

abnormal synaptic bouton morphology

neuron degeneration

cochlear ganglion degeneration

abnormal vestibular ganglion morphology

axon degeneration

Availability

Mouse Genotype

Slc9a1^swe/Slc9a1^swe

!

Slc9a1^tm1Smb/Slc9a1^tm1Smb

*

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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