|
Symbol Name ID |
Nphp4
nephronophthisis 4 (juvenile) homolog (human) MGI:2384210 |
| Darker colors indicate more annotations |
| Human Phenotypes | Cataract |
Abnormality of retinal pigmentation |
Retinal degeneration |
Retinal dystrophy |
Rod-cone dystrophy |
Undetectable electroretinogram |
Nystagmus |
Rotary nystagmus |
Hypometric saccades |
Oculomotor apraxia |
Visual impairment |
Reduced visual acuity |
Amblyopia |
Congenital blindness |
Severely reduced visual acuity |
Visual loss |
Progressive visual loss |
| Disease(s) Associated with NPHP4 | |||||||||||||||||
| Joubert syndrome 4 | |||||||||||||||||
| nephronophthisis | |||||||||||||||||
| Senior-Loken syndrome |
| Mouse Phenotypes | abnormal retina blood vessel morphology |
abnormal retina apoptosis |
abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
retina photoreceptor degeneration |
abnormal retina pigmentation |
abnormal retina morphology |
thin retina inner nuclear layer |
abnormal retina outer nuclear layer morphology |
thin retina outer nuclear layer |
abnormal retina outer plexiform layer morphology |
thin retina outer plexiform layer |
retina spots |
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| Availability | Mouse Genotype | |||||||||||||
| Nphp4nmf192/Nphp4nmf192 | ||||||||||||||
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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last database update 04/16/2024 MGI 6.23 |
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