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Symbol
Name
ID

Nphp1
nephronophthisis 1 (juvenile) homolog (human)
MGI:1858233

Phenotype annotations related to vision/eye

Darker colors indicate more annotations

Human Phenotypes

Astigmatism

Cataract

Abnormality of retinal pigmentation

Retinal degeneration

Retinal dystrophy

Cone/cone-rod dystrophy

Rod-cone dystrophy

Hypertelorism

Abnormal electroretinogram

Undetectable electroretinogram

Strabismus

Nystagmus

Rotary nystagmus

Hypometric saccades

Oculomotor apraxia

Color vision defect

Nyctalopia

Photophobia

Visual impairment

Reduced visual acuity

Amblyopia

Blindness

Congenital blindness

Severely reduced visual acuity

Visual loss

Progressive visual loss

Disease(s) Associated with NPHP1

Bardet-Biedl syndrome

Joubert syndrome 4

nephronophthisis

Senior-Loken syndrome

Mouse Phenotypes		photoreceptor inner segment degeneration	photoreceptor outer segment degeneration	disorganized retina inner nuclear layer	thin retina outer nuclear layer	retina outer nuclear layer degeneration	thin retina outer plexiform layer	retina degeneration
Availability	Mouse Genotype	photoreceptor inner segment degeneration	photoreceptor outer segment degeneration	disorganized retina inner nuclear layer	thin retina outer nuclear layer	retina outer nuclear layer degeneration	thin retina outer plexiform layer	retina degeneration
	Nphp1^em1Lisu/Nphp1^em1Lisu
	Nphp1^tm1Jgg/Nphp1^tm1Jgg

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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