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Symbol
Name
ID

Fbn1
fibrillin 1
MGI:95489

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes	Dural ectasia	Spontaneous cerebrospinal fluid leak	Decreased nerve conduction velocity	Intellectual disability, mild	Tip-toe gait	Peripheral neuropathy	Impaired pain sensation
Disease(s) Associated with FBN1	Dural ectasia	Spontaneous cerebrospinal fluid leak	Decreased nerve conduction velocity	Intellectual disability, mild	Tip-toe gait	Peripheral neuropathy	Impaired pain sensation
acromicric dysplasia
geleophysic dysplasia 2
Marfan syndrome
stiff skin syndrome
Weill-Marchesani syndrome

Mouse Phenotypes		increased solitary pulmonary neuroendocrine cell number	abnormal neuron physiology
Availability	Mouse Genotype	increased solitary pulmonary neuroendocrine cell number	abnormal neuron physiology
	Fbn1^tm1Rmz/Fbn1^tm1Rmz
	Fbn1^em1Chop/Fbn1⁺

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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