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Symbol
Name
ID
Mecp2
methyl CpG binding protein 2
MGI:99918
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Brachycephaly
Micrognathia
Malar flattening
Microcephaly
Secondary microcephaly
Progressive microcephaly
Macrocephaly
Midface retrusion
Facial hypotonia
Tented upper lip vermilion
Thin upper lip vermilion
High palate
Narrow mouth
Abnormality of the dentition
Widely spaced teeth
Excessive salivation
Drooling
Anteverted nares
Bulbous nose
Depressed nasal bridge
Prominent nasal bridge
Wide nasal bridge
Upslanted palpebral fissure
Epicanthus
Disease(s) Associated with MECP2
Rett syndrome
severe congenital encephalopathy due to MECP2 mutation
syndromic X-linked intellectual disability Lubs type
X-linked intellectual disability-psychosis-macroorchidism syndrome

Mouse Phenotypes
abnormal jaw morphology
abnormal tooth morphology
malocclusion
Availability Mouse Genotype
Mecp2tm1.1Bird/Mecp2tm1.1Bird
Mecp2tm1.1Bird/Y
Mecp2tm1Pplt/Y
Mecp2tm1Pplt/0
Mecp2tm1Bird/Y
Tg(Nes-cre)1Kln/0  (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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory