Symbol Name ID |
Adk
adenosine kinase MGI:87930 |
Darker colors indicate more annotations |
Human Phenotypes | Increased CSF methionine concentration |
Cerebral atrophy |
Multifocal epileptiform discharges |
Delayed speech and language development |
Poor speech |
Profound global developmental delay |
Severe global developmental delay |
Seizure |
Disease(s) Associated with ADK | ||||||||
hypermethioninemia due to adenosine kinase deficiency |
Mouse Phenotypes | abnormal seizure response to pharmacological agent |
increased susceptibility to pharmacologically induced seizures |
environmentally induced seizures |
convulsive seizures |
nonconvulsive seizures |
gliosis |
abnormal brain wave pattern |
abnormal synaptic plasticity |
abnormal CNS synaptic transmission |
abnormal excitatory postsynaptic potential |
enhanced long-term potentiation |
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Availability | Mouse Genotype | |||||||||||
Tg(UBC-Adk)1Bois/0 | ||||||||||||
Adktm2Bois/Adktm2Bois Tg(Nes-cre)1Kln/0 (conditional) |
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 08/02/2024 MGI 6.24 |
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