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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 |
Long face |
Narrow face |
Short chin |
High forehead |
Large forehead |
Prominent forehead |
Thick lower lip vermilion |
Deep philtrum |
Long philtrum |
Short philtrum |
Thin upper lip vermilion |
Cleft upper lip |
Thick vermilion border |
Cleft palate |
High palate |
Narrow palate |
Open mouth |
Wide mouth |
Fused teeth |
Dental crowding |
Diastema |
Drooling |
Choanal atresia |
Anteverted nares |
Depressed nasal bridge |
Narrow nasal bridge |
Prominent nasal bridge |
Wide nasal bridge |
Long nose |
Narrow nose |
Prominent nose |
Short nose |
Downslanted palpebral fissures |
Upslanted palpebral fissure |
Epicanthus |
| Disease(s) Associated with MED12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| FG syndrome | ||||||||||||||||||||||||||||||||||||||||||||||||||
| syndromic X-linked intellectual disorder Lujan-Fryns-type |
| Mouse Phenotypes | abnormal neurocranium morphology |
abnormal pharyngeal arch morphology |
abnormal first pharyngeal arch morphology |
absent second pharyngeal arch |
absent third pharyngeal arch |
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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 04/16/2024 MGI 6.23 |
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