|
Symbol Name ID |
Med12
mediator complex subunit 12 MGI:1926212 |
| Darker colors indicate more annotations |
| Human Phenotypes | Frontal bossing |
Prominent occiput |
Craniosynostosis |
Plagiocephaly |
Trigonocephaly |
Micrognathia |
Hypoplasia of the maxilla |
Malar flattening |
Macrocephaly |
Postnatal macrocephaly |
Relative macrocephaly |
Metopic synostosis |
Delayed closure of the anterior fontanelle |
Widely patent fontanelles and sutures |
Wide anterior fontanel |
Short neck |
Clinodactyly of the 2nd finger |
Broad thumb |
Prominent fingertip pads |
Abnormal thumb morphology |
Radial deviation of finger |
Hyperextensibility of the finger joints |
Arachnodactyly |
Broad hallux |
Broad toe |
Clinodactyly |
Syndactyly |
Finger syndactyly |
Split hand |
Joint contracture of the hand |
Limited elbow extension and supination |
Sacral dimple |
Joint contracture |
Flexion contracture |
Camptodactyly |
Multiple joint contractures |
Progressive flexion contractures |
Joint hypermobility |
Generalized joint hypermobility |
Abnormal sternum morphology |
Pectus excavatum |
Lumbar hyperlordosis |
Scoliosis |
| Disease(s) Associated with MED12 | |||||||||||||||||||||||||||||||||||||||||||
| FG syndrome | |||||||||||||||||||||||||||||||||||||||||||
| syndromic X-linked intellectual disorder Lujan-Fryns-type |
| Mouse Phenotypes | abnormal neurocranium morphology |
abnormal vertebral spinous process morphology |
absent vertebral arch |
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| Availability | Mouse Genotype | |||
| 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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