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Symbol
Name
ID

Pmm2
phosphomannomutase 2
MGI:1859214

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Intracranial hemorrhage

Dandy-Walker malformation

Microcephaly

Stroke-like episode

Elevated circulating growth hormone concentration

Increased circulating prolactin concentration

Delayed myelination

Olivopontocerebellar hypoplasia

Dilated fourth ventricle

Cerebellar vermis hypoplasia

Cerebellar hypoplasia

Cerebellar atrophy

Abnormality of coordination

Ataxia

Dysmetria

Tremor

Intention tremor

Delayed speech and language development

Dysarthria

Intellectual disability

Hyperreflexia

Areflexia

Hyporeflexia

Global developmental delay

Peripheral neuropathy

Polyneuropathy

Seizure

Generalized-onset seizure

Disease(s) Associated with PMM2

congenital disorder of glycosylation Ia

Mouse Phenotypes		nervous system phenotype	abnormal embryonic neuroepithelium morphology
Availability	Mouse Genotype	nervous system phenotype	abnormal embryonic neuroepithelium morphology
	Pmm2^tm1.1Cknr/Pmm2^tm2.1Cknr
	Pmm2^tm1.1Jins/Pmm2^tm2.1Jins	*

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23