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Symbol
Name
ID
Pmm2
phosphomannomutase 2
MGI:1859214
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Flexion contracture
Multiple joint contractures
Hypotonia
Axial hypotonia
Muscle weakness
Disease(s) Associated with PMM2
congenital disorder of glycosylation Ia

Mouse Phenotypes
abnormal myocardium layer morphology
abnormal myocardial fiber morphology
hypotonia
Availability Mouse Genotype
Pmm2tm1.1Cknr/Pmm2tm2.1Cknr
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
04/23/2024
MGI 6.23
The Jackson Laboratory