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Symbol
Name
ID

Pomt1
protein-O-mannosyltransferase 1
MGI:2138994

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Dandy-Walker malformation

Posterior fossa cyst

Microcephaly

Meningoencephalocele

Occipital encephalocele

Facial palsy

Optic nerve hypoplasia

Difficulty walking

Easy fatigability

Hypoplasia of the brainstem

Kinked brainstem

Hydrocephalus

Ventriculomegaly

Agyria

Pachygyria

Type II lissencephaly

Polymicrogyria

Focal cortical dysplasia

Agenesis of corpus callosum

Hypoplasia of the corpus callosum

Cerebellar vermis hypoplasia

Cerebellar hypoplasia

Cerebellar dysplasia

Cerebellar malformation

Absent speech

Delayed speech and language development

Autistic behavior

Intellectual disability

Intellectual disability, profound

Intellectual disability, severe

Excessive daytime somnolence

Inability to walk

Waddling gait

Global developmental delay

Motor delay

Delayed ability to walk

Impaired visuospatial constructive cognition

Seizure

Disease(s) Associated with POMT1

autosomal recessive limb-girdle muscular dystrophy type 2K

congenital muscular dystrophy-dystroglycanopathy type A1

muscular dystrophy-dystroglycanopathy type B1

Mouse Phenotypes		abnormal innervation	abnormal axon morphology	abnormal synaptic bouton morphology	abnormal dendrite morphology	abnormal retina bipolar cell morphology	abnormal ribbon synapse morphology
Availability	Mouse Genotype
	Pomt1^{tm1c(EUCOMM)Hmgu}/Pomt1^{tm1c(EUCOMM)Hmgu} Tg(Crx-cre)1Tfur/0 (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)
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