Symbol Name ID |
Clp1
CLP1, cleavage and polyadenylation factor I subunit MGI:2138968 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Microcephaly |
Progressive microcephaly |
Spasticity |
Delayed myelination |
Abnormal brainstem morphology |
Ventriculomegaly |
Abnormal cerebral cortex morphology |
Simplified gyral pattern |
Cerebral cortical atrophy |
Hypoplasia of the corpus callosum |
Reduced cerebral white matter volume |
Syringomyelia |
Reduced eye contact |
Absent speech |
Delayed speech and language development |
Irritability |
Intellectual disability |
Hyperreflexia |
Encephalopathy |
Global developmental delay |
Delayed fine motor development |
Delayed gross motor development |
Sensorimotor neuropathy |
Seizure |
Disease(s) Associated with CLP1 | ||||||||||||||||||||||||
pontocerebellar hypoplasia type 10 |
Mouse Phenotypes | nervous system phenotype |
increased neuron apoptosis |
defasiculated phrenic nerve |
abnormal microglial cell morphology |
decreased brain weight |
decreased brain size |
thin cerebral cortex |
abnormal olfactory bulb morphology |
abnormal cerebellar hemisphere morphology |
abnormal cerebellum vermis morphology |
abnormal cerebellum dentate nucleus morphology |
cerebellum atrophy |
abnormal phrenic nerve innervation pattern to diaphragm |
decreased motor neuron number |
motor neuron degeneration |
abnormal axon morphology |
decreased neuron number |
abnormal neuromuscular synapse morphology |
abnormal sciatic nerve morphology |
decreased spinal cord size |
axon degeneration |
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Availability | Mouse Genotype | |||||||||||||||||||||
Clp1em1Slac/Clp1em1Slac | ||||||||||||||||||||||
Clp1tm1.1Pngr/Clp1tm1.1Pngr Tg(Mnx1-Clp1,-EGFP)#Pngr/0 |
* | |||||||||||||||||||||
Clp1tm1.1Pngr/Clp1tm1.1Pngr | * | |||||||||||||||||||||
Clp1tm1.1Pngr/Clp1tm1.1Pngr Tg(Hlxb9-GFP)1Tmj/0 |
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Clp1em1Slac/Clp1em2Slac |
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 05/28/2024 MGI 6.13 |
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