Symbol Name ID |
Col4a1
collagen, type IV, alpha 1 MGI:88454 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Cerebral hemorrhage |
Facial paralysis |
Dilation of Virchow-Robin spaces |
Ischemic stroke |
Photophobia |
Spasticity |
Hydrocephalus |
Cortical dysplasia |
Focal cortical dysplasia |
Leukoencephalopathy |
Porencephalic cyst |
Schizencephaly |
Cerebellar atrophy |
Babinski sign |
Hemiparesis |
Hemiplegia |
Tetraparesis |
Intellectual disability |
Dystonia |
Limb dystonia |
Migraine |
Migraine with aura |
Seizure |
Focal-onset seizure |
Disease(s) Associated with COL4A1 | ||||||||||||||||||||||||
brain small vessel disease 1 | ||||||||||||||||||||||||
retinal arterial tortuosity |
Mouse Phenotypes | nervous system phenotype |
seizures |
intracranial hemorrhage |
intracerebral hemorrhage |
subarachnoid hemorrhage |
abnormal brain morphology |
enlarged brain ventricles |
abnormal hippocampus morphology |
abnormal cerebral cortex morphology |
delaminated cerebral cortex |
brain lesion |
astrocytosis |
abnormal brain pia mater morphology |
abnormal retina ganglion cell morphology |
optic nerve hypoplasia |
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Availability | Mouse Genotype | |||||||||||||||
Col4a1tm1.1Ics/Col4a1tm1.1Ics | ||||||||||||||||
Col4a1Acso/Col4a1+ | * | |||||||||||||||
Col4a1D456/Col4a1+ | ||||||||||||||||
Col4a1deltaex40/Col4a1+ | ||||||||||||||||
Col4a1ENU911/Col4a1+ | * | |||||||||||||||
Col4a1ENU6005/Col4a1+ | ||||||||||||||||
Col4a1F247/Col4a1+ | ||||||||||||||||
Col4a1tm1.1Ics/Col4a1+ |
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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