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

Encephalocele

Facial palsy

Difficulty walking

Fatigable weakness of skeletal muscles

Hypoplasia of the brainstem

Hydrocephalus

Ventriculomegaly

Pachygyria

Type II lissencephaly

Cerebral cortical atrophy

Frontal cortical atrophy

Agenesis of corpus callosum

Hypoplasia of the corpus callosum

Cerebellar vermis hypoplasia

Partial absence of cerebellar vermis

Cerebellar hypoplasia

Cerebellar dysplasia

Cerebellar cyst

Cognitive impairment

Intellectual disability, profound

Intellectual disability, severe

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 A2

muscular dystrophy-dystroglycanopathy type B2

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

Pomt2^tm1.1Hhu/Pomt2^tm1.1Hhu
H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ (conditional)

Pomt2^tm1.1Hhu/Pomt2^tm1.1Hhu
Emx1^tm1(cre)Krj/Emx1⁺ (conditional)

Pomt2^tm1.1Hhu/Pomt2^tm1.1Hhu
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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