Symbol
Name
ID

Fgfr2
fibroblast growth factor receptor 2
MGI:95523

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Posterior fossa cyst

Microcephaly

Blepharospasm

Ectopic posterior pituitary

Optic nerve hypoplasia

Hydrocephalus

Ventriculomegaly

Agenesis of corpus callosum

Partial agenesis of the corpus callosum

Absent septum pellucidum

Megalencephaly

Abnormal morphology of the limbic system

Cerebellar hypoplasia

Chiari malformation

Chiari type I malformation

Arachnoid cyst

Increased intracranial pressure

Delayed speech and language development

Autism

Diminished ability to concentrate

Intellectual disability

Intellectual disability, moderate

Sleep apnea

Obstructive sleep apnea

Headache

Migraine

Global developmental delay

Mild global developmental delay

Seizure

Disease(s) Associated with FGFR2

acrocephalosyndactylia

Antley-Bixler syndrome without disordered steroidogenesis

Beare-Stevenson cutis gyrata syndrome

craniosynostosis

Crouzon syndrome

Pfeiffer syndrome

Saethre-Chotzen syndrome

Mouse Phenotypes

nervous system phenotype

abnormal Rathke's pouch apoptosis

abnormal Rathke's pouch development

absent Rathke's pouch

absent adenohypophysis

abnormal pituitary gland development

abnormal brain morphology

hydrocephaly

abnormal brain size

decreased brain size

increased brain size

enlarged fourth ventricle

enlarged lateral ventricles

abnormal corpus callosum morphology

abnormal cerebral hemisphere morphology

abnormal astrocyte morphology

abnormal vestibulocochlear ganglion morphology

abnormal synaptic vesicle number

abnormal synaptic vesicle clustering

Availability

Mouse Genotype

Fgfr2^m1Sgg/Fgfr2^m1Sgg

Fgfr2^tm1.1Dsn/Fgfr2^tm1.1Dsn

Fgfr2^tm2.1Lni/Fgfr2^tm2.1Lni

Fgfr2^tm3Dsn/Fgfr2^tm3Dsn

Fgfr2^tm2Ewj/Fgfr2⁺

Fgfr2^tm1Dor/Fgfr2^tm1Dor
Tg(GFAP-cre)25Mes/0 (conditional)

Fgfr2^tm1Dor/Fgfr2^tm1Dor
Tg(Mnx1-cre)1Jrs/? (conditional)

En1^tm2(cre)Wrst/En1⁺
Fgfr2^tm1Wrst/Fgfr2^tm1Wrst (conditional)

Fgfr2^tm1Ewj/Fgfr2⁺
Tg(EIIa-cre)C5379Lmgd/0 (conditional)

Fgfr2^tm3Cxd/Fgfr2⁺
Tg(Nes-cre)1Kln/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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