|
Symbol Name ID |
Sptan1
spectrin alpha, non-erythrocytic 1 MGI:98386 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Progressive microcephaly |
Spastic tetraplegia |
CNS hypomyelination |
Atrophy/Degeneration affecting the brainstem |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Reduced cerebral white matter volume |
Cerebral atrophy |
Cerebellar atrophy |
Hypsarrhythmia |
Intellectual disability, profound |
Intellectual disability, severe |
Hyperreflexia |
Epileptic encephalopathy |
Seizure |
| Disease(s) Associated with SPTAN1 | ||||||||||||||||
| 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 | |||||||||||
| 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) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/30/2024 MGI 6.23 |
|
|
|
||
Analysis Tools