Symbol
Name
ID

Mef2c
myocyte enhancer factor 2C
MGI:99458

Phenotype annotations related to craniofacial

Darker colors indicate more annotations

Human Phenotypes	Short chin	Broad forehead	Short philtrum	Thin upper lip vermilion	Lobulated tongue	Downturned corners of mouth	Anteverted nares	Depressed nasal bridge	Short nose	Upslanted palpebral fissure
Disease(s) Associated with MEF2C
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language

Mouse Phenotypes

abnormal pharyngeal arch artery morphology

Meckel's cartilage hypoplasia

temporal bone hypoplasia

zygomatic arch hypoplasia

abnormal mandibular angle morphology

mandibular condyloid process hypoplasia

mandibular coronoid process hypoplasia

mandible hypoplasia

short mandible

abnormal craniofacial development

abnormal pharyngeal arch morphology

cleft palate

glossoptosis

Availability

Mouse Genotype

Mef2c^tm1Eno/Mef2c^tm1Eno

Mef2c^tm1Eno/Mef2c^tm1Jjs
H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ (conditional)

Contributing Projects: 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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