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Symbol
Name
ID
Smad4
SMAD family member 4
MGI:894293
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Cerebral hemorrhage
Subarachnoid hemorrhage
Cerebral arteriovenous malformation
Spinal arteriovenous malformation
Abnormal cerebral vascular morphology
Stroke
Ischemic stroke
Transient ischemic attack
Anorexia
Pituitary adenoma
Brain abscess
Glioblastoma multiforme
Benign neoplasm of the central nervous system
Neuroblastoma
Abnormal pyramidal sign
Hemiplegia/hemiparesis
Increased intracranial pressure
Abnormality of speech or vocalization
Dysarthria
Dysgraphia
Depression
Irritability
Disturbed sensory perception
Anxiety
Hallucinations
Atypical behavior
Attention deficit hyperactivity disorder
Memory impairment
Dyskinesia
Gait disturbance
Migraine
Developmental regression
Seizure
Paresthesia
Disease(s) Associated with SMAD4
hereditary hemorrhagic telangiectasia
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
Lynch syndrome
pancreatic cancer

Mouse Phenotypes
abnormal rhombomere morphology
abnormal hindbrain development
decreased Purkinje cell number
abnormal cerebellar molecular layer
Availability Mouse Genotype
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(Nes-cre)1Atp/0  (conditional)
Smad4tm1Rob/Smad4tm1.1Rob
Edil3Tg(Sox2-cre)1Amc/Edil3+  (conditional)

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