About   Help   FAQ
Symbol
Name
ID
Mbd5
methyl-CpG binding domain protein 5
MGI:2138934
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Abnormal facial shape
Coarse facial features
Round face
Mandibular prognathia
Short chin
Low anterior hairline
Broad forehead
Frontal bossing
Narrow forehead
Prominent forehead
Downturned corners of mouth
Open mouth
Wide mouth
Abnormality of lower lip
Thick lower lip vermilion
Long philtrum
Short philtrum
Smooth philtrum
Tented upper lip vermilion
Thin upper lip vermilion
Thin vermilion border
Drooling
Abnormality of the dentition
Delayed eruption of permanent teeth
Dental crowding
Diastema
Widely spaced teeth
Cleft palate
Macroglossia
Anteverted nares
Broad nasal tip
Bulbous nose
Prominent nose
Short nose
Wide nose
Thick nasal alae
Depressed nasal bridge
Wide nasal bridge
Highly arched eyebrow
Horizontal eyebrow
Synophrys
Thick eyebrow
Long eyelashes
Blepharophimosis
Downslanted palpebral fissures
Upslanted palpebral fissure
Cleft eyelid
Epicanthus
Deeply set eye
Hypertelorism
Hypotelorism
Sparse scalp hair
Micrognathia
Retrognathia
Microcephaly
Brachycephaly
Plagiocephaly
Dandy-Walker malformation
Disease(s) Associated with MBD5
autosomal dominant non-syndromic intellectual disability

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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/14/2017
MGI 6.11
The Jackson Laboratory