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Symbol
Name
ID

Nf1
neurofibromin 1
MGI:97306

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes

Lisch nodules

Abnormality of the eye

Corneal opacity

Cataract

Heterochromia iridis

Chorioretinal coloboma

Abnormality of retinal pigmentation

Hypertelorism

Proptosis

Abnormal electroretinogram

Myopia

Abnormality of vision

Visual impairment

Glaucoma

Ptosis

Disease(s) Associated with NF1

neurofibromatosis 1

neurofibromatosis-Noonan syndrome

spinal neurofibromatosis

Watson syndrome

Mouse Phenotypes		retina ganglion cell degeneration	abnormal optic nerve morphology	abnormal optic chiasm morphology	increased optic chiasm size	decreased eye pigmentation	microphthalmia
Availability	Mouse Genotype	retina ganglion cell degeneration	abnormal optic nerve morphology	abnormal optic chiasm morphology	increased optic chiasm size	decreased eye pigmentation	microphthalmia
	Nf1^tm1Fcr/Nf1^tm1Fcr
	Nf1^tm1Fcr/Nf1^tm1.1Par
	Nf1^tm1Fcr/Nf1⁺ Tg(GFAP-cre)#Gtm/0 (conditional)
	Nf1^tm1Par/Nf1^tm1Fcr Tg(GFAP-cre)#Gtm/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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