|
Symbol Name ID |
Ubtf
upstream binding transcription factor, RNA polymerase I MGI:98512 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Secondary microcephaly |
Dysphagia |
Spasticity |
Peripheral demyelination |
Axonal loss |
Ventriculomegaly |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Hyperintensity of cerebral white matter on MRI |
Cerebral atrophy |
Cerebellar atrophy |
Neurodegeneration |
Ataxia |
Gait ataxia |
Abnormality of extrapyramidal motor function |
Parkinsonism |
Chorea |
Abnormal pyramidal sign |
EEG abnormality |
Absent speech |
Aphasia |
Dysarthria |
Atypical behavior |
Autistic behavior |
Aggressive behavior |
Hyperactivity |
Impulsivity |
Mental deterioration |
Intellectual disability, profound |
Intellectual disability, severe |
Dystonia |
Inability to walk |
Developmental regression |
Global developmental delay |
Seizure |
Impaired pain sensation |
| Disease(s) Associated with UBTF | |||||||||||||||||||||||||||||||||||||
| childhood-onset neurodegeneration with brain atrophy |
| Mouse Phenotypes | abnormal neural tube morphology |
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| Availability | Mouse Genotype | |
| Ubtfem1(IMPC)Mbp/Ubtf+ | ||
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 04/30/2024 MGI 6.23 |
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