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Symbol Name ID |
Npc2
NPC intracellular cholesterol transporter 2 MGI:1915213 |
| Darker colors indicate more annotations |
| Human Phenotypes | Dysphagia |
Spasticity |
Neurofibrillary tangles |
Ataxia |
Cataplexy |
Dysarthria |
Loss of speech |
Psychosis |
Perseverative thought |
Motor stereotypy |
Dementia |
Intellectual disability |
Dystonia |
Global developmental delay |
Seizure |
| Disease(s) Associated with NPC2 | |||||||||||||||
| Niemann-Pick disease type C2 |
| Mouse Phenotypes | Purkinje cell degeneration |
decreased Purkinje cell number |
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| Availability | Mouse Genotype | ||
| Npc2tm1Plob/Npc2tm1Plob | |||
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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