|
Symbol Name ID |
Smad2
SMAD family member 2 MGI:108051 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Pituitary adenoma |
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 SMAD2 | ||||||||||||||||||||||||
| Lynch syndrome |
| Mouse Phenotypes | nervous system phenotype |
increased neuron apoptosis |
abnormal cerebellar granule cell migration |
abnormal cerebellar foliation |
absent midbrain |
absent forebrain |
abnormal cerebellum morphology |
abnormal Purkinje cell dendrite morphology |
abnormal cerebellar granule cell morphology |
abnormal cerebellum vermis lobule IX morphology |
abnormal cerebellum vermis lobule X morphology |
decreased CNS synapse formation |
|
| Availability | Mouse Genotype | ||||||||||||
| Smad2tm1.1Nomu/Smad2tm1.1Nomu Tg(Nes-cre)1Kln/0 (conditional) |
* | ||||||||||||
| Smad2tm1Rob/Smad2tm2Rob Edil3Tg(Sox2-cre)1Amc/Edil3+ (conditional) |
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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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