Symbol Name ID |
Wwox
WW domain-containing oxidoreductase MGI:1931237 |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Secondary microcephaly |
Progressive microcephaly |
Spasticity |
Lower limb spasticity |
Cerebral calcification |
Delayed CNS myelination |
Simplified gyral pattern |
Thin corpus callosum |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Cerebellar vermis atrophy |
Cerebellar atrophy |
Ataxia |
Gait ataxia |
Limb ataxia |
Babinski sign |
EEG abnormality |
Reduced eye contact |
Dysarthria |
Intellectual disability |
Hyperreflexia |
Hyporeflexia |
Hypokinesia |
Epileptic encephalopathy |
Global developmental delay |
Seizure |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure with focal onset |
Generalized non-motor (absence) seizure |
Focal clonic seizure |
Focal tonic seizure |
Generalized clonic seizure |
Epileptic spasm |
Status epilepticus |
Disease(s) Associated with WWOX | |||||||||||||||||||||||||||||||||||
autosomal recessive spinocerebellar ataxia 12 | |||||||||||||||||||||||||||||||||||
developmental and epileptic encephalopathy 28 |
Mouse Phenotypes | convulsive seizures |
tonic-clonic seizures |
increased pituitary gland weight |
abnormal pituitary gland physiology |
microgliosis |
increased brain weight |
Purkinje cell degeneration |
thin cerebellar granule layer |
thin cerebellar molecular layer |
absent cerebellum fissure |
abnormal cerebellum vermis lobule morphology |
cerebellum atrophy |
cerebellum hypoplasia |
astrocytosis |
decreased oligodendrocyte number |
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Availability | Mouse Genotype | |||||||||||||||
Wwoxem1Mald/Wwoxem1Mald | ||||||||||||||||
Wwoxtm1.1Mald/Wwoxtm1.1Mald | ||||||||||||||||
Wwoxtm1Ria/Wwoxtm1Ria |
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 05/14/2024 MGI 6.23 |
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