Symbol Name ID |
Pclo
piccolo (presynaptic cytomatrix protein) MGI:1349390 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Progressive microcephaly |
Spasticity |
Hypoplasia of the pons |
Hypoplasia of the brainstem |
Atrophy/Degeneration affecting the brainstem |
Hypoplasia of the corpus callosum |
Reduced cerebral white matter volume |
Cerebral atrophy |
Cerebellar hypoplasia |
Cerebellar atrophy |
Hyperreflexia |
Global developmental delay |
Seizure |
Disease(s) Associated with PCLO | |||||||||||||
pontocerebellar hypoplasia type 3 |
Mouse Phenotypes | nervous system phenotype |
abnormal synaptic vesicle number |
abnormal CNS synaptic transmission |
increased excitatory postsynaptic current amplitude |
increased synaptic depression |
increased neurotransmitter release |
|
Availability | Mouse Genotype | ||||||
Pclotm1.1Mver/Pclotm1.1Mver | |||||||
Pclotm3.2Sud/Pclotm3.2Sud | * |
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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