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Symbol
Name
ID
Pomt2
protein-O-mannosyltransferase 2
MGI:2444430
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Dandy-Walker malformation
Posterior fossa cyst
Encephalocele
Meningoencephalocele
Occipital encephalocele
Facial palsy
Optic nerve hypoplasia
Hypertonia
Difficulty walking
Fatigable weakness of skeletal muscles
Hypoplasia of the pons
Hypoplasia of the brainstem
Agyria
Pachygyria
Type II lissencephaly
Polymicrogyria
Aplasia/Hypoplasia of the corpus callosum
Agenesis of corpus callosum
Hypoplasia of the corpus callosum
Cerebral cortical atrophy
Frontal 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
Global developmental delay
Motor delay
Delayed gross motor development
Specific learning disability
Seizure
Disease(s) Associated with POMT2
autosomal recessive limb-girdle muscular dystrophy type 2N
congenital muscular dystrophy-dystroglycanopathy type A1
congenital muscular dystrophy-dystroglycanopathy type A2
muscular dystrophy-dystroglycanopathy

Mouse Phenotypes
nervous system phenotype
abnormal radial glial cell morphology
abnormal cerebellar granule cell migration
abnormal Cajal-Retzius cell morphology
abnormal forebrain morphology
abnormal Ammon gyrus morphology
abnormal hippocampus CA3 region morphology
abnormal dentate gyrus morphology
abnormal hippocampus layer morphology
abnormal neocortex morphology
abnormal cerebellum morphology
astrocytosis
Availability Mouse Genotype
Pomt2tm1.1Hhu/Pomt2tm1.1Hhu
H2az2Tg(Wnt1-cre)11Rth/0  (conditional)
*
Pomt2tm1.1Hhu/Pomt2tm1.1Hhu
Emx1tm1(cre)Krj/Emx1+  (conditional)
Pomt2tm1.1Hhu/Pomt2tm1.1Hhu
Tg(GFAP-cre)25Mes/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
02/16/2021
MGI 6.16
The Jackson Laboratory