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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
Microcephaly
Dandy-Walker malformation
Posterior fossa cyst
Meningoencephalocele
Occipital encephalocele
Facial palsy
Optic nerve hypoplasia
Hypertonia
Difficulty walking
Easy fatigability
Hypoplasia of the pons
Hypoplasia of the brainstem
Agyria
Pachygyria
Type II lissencephaly
Polymicrogyria
Agenesis of corpus callosum
Hypoplasia of the corpus callosum
Cerebral cortical atrophy
Cerebellar hypoplasia
Cerebellar dysplasia
Cerebellar malformation
Cerebellar cyst
Hydrocephalus
Ventriculomegaly
Cognitive impairment
Intellectual disability
Intellectual disability, profound
Intellectual disability, severe
Absent speech
Excessive daytime somnolence
Areflexia
Hyporeflexia
Inability to walk
Waddling gait
Autistic behavior
Delayed speech and language development
Global developmental delay
Motor delay
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

Mouse Phenotypes
abnormal innervation
abnormal axon morphology
abnormal synaptic bouton morphology
abnormal dendrite morphology
abnormal retinal bipolar cell morphology
abnormal ribbon synapse morphology
Availability Mouse Genotype
Pomt1tm1c(EUCOMM)Hmgu/Pomt1tm1c(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)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory