Symbol
Name
ID

Pomgnt1
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
MGI:1915523

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Enlarged flash visual evoked potentials

Photophobia

Spasticity

Hypoplasia of the pons

Hypoplasia of the brainstem

Hydrocephalus

Ventriculomegaly

Pachygyria

Type II lissencephaly

Polymicrogyria

Aplasia/Hypoplasia of the corpus callosum

Cerebellar hypoplasia

Cerebellar dysplasia

Cerebellar cyst

Myoclonus

EEG abnormality

Intellectual disability

Intellectual disability, profound

Intellectual disability, severe

Hyperreflexia

Global developmental delay

Severe global developmental delay

Motor delay

Seizure

Disease(s) Associated with POMGNT1

autosomal recessive limb-girdle muscular dystrophy type 2O

congenital muscular dystrophy-dystroglycanopathy type A3

muscular dystrophy-dystroglycanopathy type B3

retinitis pigmentosa

Mouse Phenotypes

abnormal radial glial cell morphology

abnormal brain development

abnormal Cajal-Retzius cell morphology

abnormal cerebellar foliation

abnormal cerebellum external granule cell layer morphology

hydrocephaly

dilated lateral ventricle

abnormal inferior colliculus morphology

abnormal superior colliculus morphology

abnormal hippocampus morphology

abnormal dentate gyrus morphology

abnormal cerebral cortex morphology

abnormal neocortex morphology

abnormal stratification in cerebral cortex

thin cerebral cortex

abnormal cerebellum morphology

abnormal cerebellar hemisphere morphology

small cerebellum

abnormal meninges morphology

abnormal brain pia mater morphology

decreased retina ganglion cell number

abnormal optic nerve morphology

Availability

Mouse Genotype

Pomgnt1^{Gt(OST179231)Lex}/Pomgnt1^{Gt(OST179231)Lex}

Pomgnt1^tm1.1Cfg/Pomgnt1^tm1.1Cfg

Pomgnt1^tm1Lex/Pomgnt1^tm1Lex

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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