Symbol
Name
ID

Sufu
SUFU negative regulator of hedgehog signaling
MGI:1345643

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Cerebellar hemorrhage

Oculomotor apraxia

Neurofibroma

Cerebellar calcifications

Calcification of falx cerebri

Abnormal cranial nerve morphology

Hydrocephalus

Polymicrogyria

Abnormal cerebellum morphology

Cerebellar cyst

Molar tooth sign on MRI

Meningioma

Spinal cord tumor

Medulloblastoma

Cerebellar medulloblastoma

Neuroblastoma

Ataxia

Cerebellar ataxia associated with quadrupedal gait

Dysmetria

Progressive cerebellar ataxia

Intention tremor

Increased intracranial pressure

Dysarthria

Irritability

Lethargy

Cognitive impairment

Intellectual disability, mild

Abnormal brain FDG positron emission tomography

Headache

Migraine

Global developmental delay

Disease(s) Associated with SUFU

Joubert syndrome 32

medulloblastoma

nevoid basal cell carcinoma syndrome 2

Mouse Phenotypes		brain aneurysm	intracranial hemorrhage	abnormal neural tube morphology	abnormal floor plate morphology	abnormal neural tube closure	open neural tube	abnormal forebrain development	abnormal hindbrain development	abnormal midbrain development	exencephaly
Availability	Mouse Genotype	brain aneurysm	intracranial hemorrhage	abnormal neural tube morphology	abnormal floor plate morphology	abnormal neural tube closure	open neural tube	abnormal forebrain development	abnormal hindbrain development	abnormal midbrain development	exencephaly
	Sufu^Gt(XB699)Byg/Sufu^Gt(XB699)Byg
	Sufu^rgsc2062/Sufu^rgsc2062
	Sufu^rgsc2075/Sufu^rgsc2075
	Sufu^tm1.1Blnw/Sufu^tm1.1Blnw
	Sufu^tm1Aeb/Sufu^tm1Aeb
	Sufu^{tm1b(KOMP)Wtsi}/Sufu^{tm1b(KOMP)Wtsi}
	Sufu^tm1Rto/Sufu^tm1Rto

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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