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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
Spastic tetraplegia
CNS hypomyelination
Atrophy/Degeneration affecting the brainstem
Hypoplasia of the corpus callosum
Cerebral atrophy
Cerebellar atrophy
Hypsarrhythmia
Hyperreflexia
Epileptic encephalopathy
Intellectual disability, profound
Intellectual disability, severe
Seizures
Disease(s) Associated with SPTAN1
early infantile epileptic encephalopathy 5

Mouse Phenotypes
abnormal neural tube closure
abnormal cortical ventricular zone morphology
cerebral aqueductal stenosis
abnormal lateral ventricle morphology
dilated brain ventricles
abnormal forebrain morphology
abnormal embryonic/fetal subventricular zone morphology
abnormal axon initial segment morphology
Availability Mouse Genotype
Sptan1Gt(RRQ171)Byg/Sptan1Gt(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)
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last database update
07/09/2019
MGI 6.14
The Jackson Laboratory