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Symbol
Name
ID
Mecp2
methyl CpG binding protein 2
MGI:99918
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Brachycephaly
Micrognathia
Malar flattening
Microcephaly
Secondary microcephaly
Progressive microcephaly
Macrocephaly
Short neck
Clinodactyly of the 5th finger
2-3 toe cutaneous syndactyly
Short foot
Small hand
Wrist flexion contracture
Flexion contracture
Kyphosis
Kyphoscoliosis
Scoliosis
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
kyphosis
Availability Mouse Genotype
Mecp2tm1.1Bird/Mecp2tm1.1Bird
Mecp2tm1.1Bird/Y
Mecp2tm1Hzo/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