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Symbol
Name
ID
Col4a1
collagen, type IV, alpha 1
MGI:88454
Phenotype annotations related to nervous system
*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
Availability Mouse Genotype
Col4a1tm1.1Ics/Col4a1tm1.1Ics
Col4a1Acso/Col4a1+ *
Col4a1D456/Col4a1+
Col4a1deltaex40/Col4a1+
Col4a1ENU911/Col4a1+ *
Col4a1ENU6005/Col4a1+
Col4a1F247/Col4a1+
Col4a1tm1.1Ics/Col4a1+

Contributing Projects:
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
The Jackson Laboratory