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Symbol
Name
ID

Sptbn2
spectrin beta, non-erythrocytic 2
MGI:1313261

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Facial myokymia

Ankle clonus

Spasticity

Cerebellar hypoplasia

Cerebellar atrophy

Ataxia

Dysdiadochokinesis

Dysmetria

Gait ataxia

Limb ataxia

Incoordination

Intention tremor

Upper motor neuron dysfunction

Delayed speech and language development

Dysarthria

Cognitive impairment

Hyperreflexia

Broad-based gait

Unsteady gait

Global developmental delay

Motor delay

Impaired vibratory sensation

Disease(s) Associated with SPTBN2

autosomal recessive spinocerebellar ataxia 14

spinocerebellar ataxia type 5

Mouse Phenotypes		nervous system phenotype	clonic seizures	abnormal Purkinje cell morphology	Purkinje cell degeneration	abnormal Purkinje cell dendrite morphology	abnormal cerebellar molecular layer	thin cerebellar molecular layer	abnormal nervous system electrophysiology	increased excitatory postsynaptic current amplitude
Availability	Mouse Genotype	nervous system phenotype	clonic seizures	abnormal Purkinje cell morphology	Purkinje cell degeneration	abnormal Purkinje cell dendrite morphology	abnormal cerebellar molecular layer	thin cerebellar molecular layer	abnormal nervous system electrophysiology	increased excitatory postsynaptic current amplitude
	Sptbn2^Gt(XK442)Byg/Sptbn2^Gt(XK442)Byg
	Sptbn2^tm1Mjac/Sptbn2^tm1Mjac
	Sptbn2^tm1Mjac/Sptbn2⁺	*

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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