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Symbol
Name
ID
Mbd5
methyl-CpG binding domain protein 5
MGI:2138934
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Low posterior hairline
Frontal bossing
Brachycephaly
Micrognathia
Mandibular prognathia
Retrognathia
Enlarged posterior fossa
Microcephaly
Secondary microcephaly
Midface retrusion
Short chin
Broad forehead
Everted lower lip vermilion
Thin upper lip vermilion
Macroglossia
Downturned corners of mouth
Open mouth
Wide mouth
Microdontia
Widely spaced teeth
Drooling
Short columella
Depressed nasal ridge
Bulbous nose
Prominent nose
Short nose
Highly arched eyebrow
Thick eyebrow
Long eyelashes
Disease(s) Associated with MBD5
autosomal dominant intellectual developmental disorder 1

Mouse Phenotypes
abnormal nasal bone morphology
abnormal lip morphology
Availability Mouse Genotype
Mbd5Gt(Ayu21-B205)Imeg/Mbd5+
Mbd5tm1b(EUCOMM)Wtsi/Mbd5+

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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Funding Information
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last database update
05/21/2024
MGI 6.23
The Jackson Laboratory