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Symbol
Name
ID
Pmm2
phosphomannomutase 2
MGI:1859214
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Mandibular prognathia
Retrognathia
Dandy-Walker malformation
Enlarged cisterna magna
Microcephaly
Abnormal facial shape
Long face
Prominent forehead
Long philtrum
Thin upper lip vermilion
High palate
Wide mouth
Anteverted nares
Depressed nasal bridge
Prominent nasal bridge
Prominent nose
Almond-shaped palpebral fissure
Upslanted palpebral fissure
Epicanthus
Disease(s) Associated with PMM2
congenital disorder of glycosylation Ia

Mouse Phenotypes
large posterior fontanelle
Availability Mouse Genotype
Pmm2tm1.1Jins/Pmm2tm2.1Jins

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
04/30/2024
MGI 6.23
The Jackson Laboratory