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Symbol
Name
ID
Smc3
structural maintenance of chromosomes 3
MGI:1339795
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Low anterior hairline
Frontal bossing
Brachycephaly
Plagiocephaly
Micrognathia
Primary microcephaly
Secondary microcephaly
Delayed closure of the anterior fontanelle
Facial asymmetry
Flat face
Long philtrum
Smooth philtrum
Thin upper lip vermilion
Thin vermilion border
Cleft palate
High palate
Downturned corners of mouth
Microdontia
Anteverted nares
Bulbous nose
Depressed nasal bridge
Prominent nasal bridge
Highly arched eyebrow
Laterally extended eyebrow
Synophrys
Thick eyebrow
Long eyelashes
Hooded eyelid
Nasolacrimal duct obstruction
Disease(s) Associated with SMC3
Cornelia de Lange syndrome 3

Mouse Phenotypes
abnormal craniofacial morphology
small cranium
cleft palate
Availability Mouse Genotype
Smc3tm1a(EUCOMM)Wtsi/Smc3+
Smc3tm1.1Toshi/Smc3tm1.1Toshi
H2az2Tg(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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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory