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Symbol
Name
ID
Col4a2
collagen, type IV, alpha 2
MGI:88455
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Intracranial hemorrhage
Spasticity
Spastic tetraplegia
Ventriculomegaly
Polymicrogyria
Porencephalic cyst
Schizencephaly
Subcortical heterotopia
Cerebral palsy
Hemiplegia/hemiparesis
Hemiplegia
Intellectual disability
Abnormality of movement
Global developmental delay
Seizure
Bilateral tonic-clonic seizure
Focal-onset seizure
Disease(s) Associated with COL4A2
brain small vessel disease 2
porencephaly

Mouse Phenotypes
increased trigeminal neuroma incidence
abnormal brain morphology
abnormal forebrain morphology
abnormal hindbrain morphology
abnormal trigeminal ganglion morphology
abnormal oculomotor nerve morphology
Availability Mouse Genotype
Col4a2em1(IMPC)Wtsi/Col4a2em1(IMPC)Wtsi
Col4a2ENU415/Col4a2+
Col4a2ENU4003/Col4a2+
Col4a2ENU4020/Col4a2+

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
04/23/2024
MGI 6.23
The Jackson Laboratory