Symbol Name ID |
Pomt1
protein-O-mannosyltransferase 1 MGI:2138994 |
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 |
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Availability | Mouse Genotype | ||||||
Pomt1tm1c(EUCOMM)Hmgu/Pomt1tm1c(EUCOMM)Hmgu Tg(Crx-cre)1Tfur/0 (conditional) |
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 05/14/2024 MGI 6.23 |
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