Symbol
Name
ID

Sptan1
spectrin alpha, non-erythrocytic 1
MGI:98386

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Progressive microcephaly

Areflexia of lower limbs

Hyporeflexia of lower limbs

Areflexia of upper limbs

Hyporeflexia of upper limbs

Spastic tetraplegia

Difficulty walking

Frequent falls

CNS hypomyelination

Peripheral axonal neuropathy

Motor axonal neuropathy

Atrophy/Degeneration affecting the brainstem

Cerebral cortical atrophy

Hypoplasia of the corpus callosum

Reduced cerebral white matter volume

Cerebral atrophy

Cerebellar atrophy

Clumsiness

Babinski sign

Hypsarrhythmia

Decreased compound muscle action potential amplitude

Delayed speech and language development

Restless legs

Intellectual disability, profound

Intellectual disability, severe

Hyperreflexia

Hyperactive patellar reflex

Broad-based gait

Loss of ambulation

Steppage gait

Unsteady gait

Epileptic encephalopathy

Motor delay

Dyslexia

Peripheral neuropathy

Seizure

Hypoesthesia

Impaired vibratory sensation

Disease(s) Associated with SPTAN1

autosomal dominant distal hereditary motor neuronopathy 11

developmental and epileptic encephalopathy 5

Mouse Phenotypes

abnormal neural tube morphology

abnormal neural tube closure

abnormal forebrain development

abnormal cortical ventricular zone morphology

abnormal midbrain development

cerebral aqueductal stenosis

abnormal lateral ventricle morphology

dilated brain ventricle

abnormal forebrain morphology

abnormal embryonic/fetal subventricular zone morphology

abnormal axon initial segment morphology

Availability

Mouse Genotype

Sptan1^em1(IMPC)Mbp/Sptan1^em1(IMPC)Mbp

Sptan1^{Gt(RRQ171)Byg}/Sptan1^{Gt(RRQ171)Byg}

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 05/14/2024 MGI 6.23