Symbol Name ID |
Sptan1
spectrin alpha, non-erythrocytic 1 MGI:98386 |
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 |
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 |
Restless legs |
Babinski sign |
Hypsarrhythmia |
Decreased compound muscle action potential amplitude |
Delayed speech and language development |
Intellectual disability, profound |
Intellectual disability, severe |
Hyperreflexia |
Hyperactive patellar reflex |
Gait disturbance |
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 |
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Availability | Mouse Genotype | |||||||||||
Sptan1em1(IMPC)Mbp/Sptan1em1(IMPC)Mbp | ||||||||||||
Sptan1Gt(RRQ171)Byg/Sptan1Gt(RRQ171)Byg |
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 09/03/2024 MGI 6.24 |
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