|
Symbol Name ID |
Med12
mediator complex subunit 12 MGI:1926212 |
| Darker colors indicate more annotations |
| Human Phenotypes | Drooling |
Small pituitary gland |
Optic nerve hypoplasia |
Spasticity |
Hydrocephalus |
Ventriculomegaly |
Aplasia/Hypoplasia of the corpus callosum |
Agenesis of corpus callosum |
Partial agenesis of the corpus callosum |
Abnormal cerebellum morphology |
Chiari type I malformation |
Gray matter heterotopia |
High pitched voice |
Delayed speech and language development |
Emotional lability |
Low frustration tolerance |
Psychosis |
Happy demeanor |
Abnormal social behavior |
Reduced social reciprocity |
Autism |
Aggressive behavior |
Compulsive behaviors |
Hyperactivity |
Attention deficit hyperactivity disorder |
Intellectual disability |
Intellectual disability, moderate |
Broad-based gait |
Global developmental delay |
Motor delay |
Seizure |
| Disease(s) Associated with MED12 | |||||||||||||||||||||||||||||||
| FG syndrome | |||||||||||||||||||||||||||||||
| syndromic X-linked intellectual disorder Lujan-Fryns-type |
| Mouse Phenotypes | abnormal neural tube morphology |
open neural tube |
craniorachischisis |
kinked neural tube |
exencephaly |
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| Availability | Mouse Genotype | |||||
| Med12tm1Hsch/Y | ||||||
| Med12tm1.1Hsch/Med12+ Tg(CMV-cre)1Cgn/0 (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 04/30/2024 MGI 6.23 |
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