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Symbol
Name
ID
Tgfbr2
transforming growth factor, beta receptor II
MGI:98729
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Dilatation of the cerebral artery
Anorexia
Pituitary adenoma
Plexiform neurofibroma
Astrocytoma
Pleomorphic xanthoastrocytoma
Ependymoma
Glioblastoma multiforme
Oligodendroglioma
Hydrocephalus
Agenesis of corpus callosum
Chiari malformation
Dural ectasia
Spontaneous cerebrospinal fluid leak
Gray matter heterotopia
Benign neoplasm of the central nervous system
Medulloblastoma
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
Dyskinesia
Gait disturbance
Migraine
Developmental regression
Global developmental delay
Seizure
Paresthesia
Disease(s) Associated with TGFBR2
Loeys-Dietz syndrome 2
Lynch syndrome
Marfan syndrome
mismatch repair cancer syndrome
pancreatic cancer

Mouse Phenotypes
abnormal neural crest cell morphology
microgliosis
abnormal midbrain morphology
abnormal hindbrain morphology
abnormal brain dura mater morphology
decreased retina ganglion cell number
Availability Mouse Genotype
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Tg(CAG-cre/Esr1*)5Amc/0
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm  (conditional)
Tgfbr2tm1Karl/Tgfbr2tm1Karl
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (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