|
Symbol Name ID |
Cnp
2',3'-cyclic nucleotide 3' phosphodiesterase MGI:88437 |
| Darker colors indicate more annotations |
| Human Phenotypes | Progressive microcephaly |
Torticollis |
Spastic tetraplegia |
Hypoplasia of the corpus callosum |
Punctate periventricular T2 hyperintense foci |
Cerebellar atrophy |
Babinski sign |
EEG abnormality |
Irritability |
Delusion |
Schizophrenia |
Hallucinations |
Negativism |
Social and occupational deterioration |
Brisk reflexes |
Dystonia |
Elevated brain choline level by MRS |
Reduced brain N-acetyl aspartate level by MRS |
Developmental regression |
| Disease(s) Associated with CNP | |||||||||||||||||||
| hypomyelinating leukodystrophy 20 | |||||||||||||||||||
| schizophrenia |
| Mouse Phenotypes | convulsive seizures |
gliosis |
tomacula |
axon degeneration |
dysmyelination |
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| Availability | Mouse Genotype | |||||
| Cnptm1(cre)Kan/Cnptm1(cre)Kan | ||||||
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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