|
Symbol Name ID |
Pafah1b1
platelet-activating factor acetylhydrolase, isoform 1b, subunit 1 MGI:109520 |
| Darker colors indicate more annotations |
| Human Phenotypes | Secondary microcephaly |
Progressive microcephaly |
Dilation of Virchow-Robin spaces |
Spastic tetraparesis |
Opisthotonus |
Progressive spastic quadriplegia |
Hypoplasia of the brainstem |
Ventriculomegaly |
Dysgyria |
Lissencephaly |
Agyria |
Pachygyria |
Anterior predominant thick cortex pachygyria |
Posterior predominant thick cortex pachygyria |
Subcortical band heterotopia |
Thick cerebral cortex |
Abnormal cerebral white matter morphology |
Abnormal corpus callosum morphology |
Hypoplasia of the corpus callosum |
Cavum septum pellucidum |
Cerebellar vermis hypoplasia |
Cerebellar hypoplasia |
Gray matter heterotopia |
Tetraplegia |
EEG with changes in voltage |
EEG with spike-wave complexes |
Hypsarrhythmia |
Language impairment |
Intellectual disability |
Intellectual disability, mild |
Intellectual disability, profound |
Intellectual disability, severe |
Epileptic encephalopathy |
Developmental regression |
Neurodevelopmental delay |
Global developmental delay |
Delayed ability to sit |
Seizure |
Focal impaired awareness seizure |
Atypical absence seizure |
Focal motor seizure |
Generalized myoclonic seizure |
Generalized tonic seizure |
Atonic seizure |
Infantile spasms |
| Disease(s) Associated with PAFAH1B1 | |||||||||||||||||||||||||||||||||||||||||||||
| lissencephaly 1 |
| Mouse Phenotypes | increased neuron apoptosis |
abnormal radial glial cell morphology |
abnormal neuronal migration |
abnormal telencephalon development |
delayed brain development |
enlarged brain ventricles |
abnormal hippocampus morphology |
abnormal dentate gyrus morphology |
abnormal hippocampus pyramidal cell layer |
absent hippocampus stratum oriens |
abnormal neocortex morphology |
abnormal stratification in cerebral cortex |
abnormal olfactory bulb morphology |
ectopic Purkinje cell |
|
| Availability | Mouse Genotype | ||||||||||||||
| Pafah1b1tm2Awb/Pafah1b1tm2Awb | |||||||||||||||
| Pafah1b1tm1Awb/Pafah1b1+ | |||||||||||||||
| Pafah1b1tm1Awb/Pafah1b1tm2Awb | |||||||||||||||
| Pafah1b1tm1Or/Pafah1b1+ | |||||||||||||||
| Pafah1b1tm2.2Awb/Pafah1b1+ | |||||||||||||||
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 04/23/2024 MGI 6.23 |
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