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Symbol
Name
ID
Tgfbr1
transforming growth factor, beta receptor I
MGI:98728
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Dilatation of the cerebral artery
Pituitary adenoma
Glioblastoma multiforme
Hydrocephalus
Chiari malformation
Dural ectasia
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
Intellectual disability
Obstructive sleep apnea
Dyskinesia
Gait disturbance
Migraine
Developmental regression
Global developmental delay
Seizure
Paresthesia
Disease(s) Associated with TGFBR1
Loeys-Dietz syndrome 1
Lynch syndrome

Mouse Phenotypes
abnormal neural tube morphology
kinked neural tube
Availability Mouse Genotype
Tgfbr1tm1Karl/Tgfbr1tm1Karl

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
05/21/2024
MGI 6.23
The Jackson Laboratory