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Symbol
Name
ID

Msx2
msh homeobox 2
MGI:97169

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

Occipital encephalocele

Abnormal cerebral vein morphology

Ectopic posterior pituitary

Optic nerve hypoplasia

Hydrocephalus

Partial agenesis of the corpus callosum

Encephalomalacia

Chiari type I malformation

Myelomeningocele

Increased intracranial pressure

Delayed speech and language development

Autism

Diminished ability to concentrate

Intellectual disability

Obstructive sleep apnea

Headache

Global developmental delay

Mild global developmental delay

Seizure

Disease(s) Associated with MSX2

craniosynostosis

parietal foramina

Mouse Phenotypes		nervous system phenotype	tonic seizures	abnormal cerebellum development	delaminated Purkinje cell layer	delaminated cerebellar granule layer	abnormal cerebellum anterior vermis morphology	absent cerebellum vermis lobule IX	absent cerebellum vermis lobule VIII	cerebellum vermis hypoplasia
Availability	Mouse Genotype	nervous system phenotype	tonic seizures	abnormal cerebellum development	delaminated Purkinje cell layer	delaminated cerebellar granule layer	abnormal cerebellum anterior vermis morphology	absent cerebellum vermis lobule IX	absent cerebellum vermis lobule VIII	cerebellum vermis hypoplasia
	Msx2^tm1.1Yvla/Msx2^tm1.1Yvla
	Msx2^tm1Rilm/Msx2^tm1Rilm	*

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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