Symbol Name ID |
Tgfbr2
transforming growth factor, beta receptor II MGI:98729 |
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 |
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Availability | Mouse Genotype | ||||||
Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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Tg(CAG-cre/Esr1*)5Amc/0 Tgfbr2tm1.2Hlm/Tgfbr2tm1.2Hlm (conditional) |
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Tgfbr2tm1Karl/Tgfbr2tm1Karl H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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 |
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