|
Symbol Name ID |
Mcoln1
mucolipin 1 MGI:1890498 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Photophobia |
Spastic tetraplegia |
Cerebral dysmyelination |
Dysplastic corpus callosum |
Cerebellar atrophy |
Ataxia |
Dysmetria |
Slurred speech |
Myoclonus |
Babinski sign |
EEG abnormality |
Absent speech |
Atypical behavior |
Progressive neurologic deterioration |
Intellectual disability |
Hyperreflexia |
Dystonia |
Gait disturbance |
Developmental stagnation |
Global developmental delay |
Seizure |
| Disease(s) Associated with MCOLN1 | ||||||||||||||||||||||
| glycoproteinosis | ||||||||||||||||||||||
| mucolipidosis type IV |
| Mouse Phenotypes | abnormal nervous system morphology |
decreased brain size |
abnormal optic nerve morphology |
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| Availability | Mouse Genotype | |||
| Mcoln1tm1Sasl/Mcoln1tm1Sasl | ||||
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 05/07/2024 MGI 6.23 |
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