Symbol Name ID |
Aipl1
aryl hydrocarbon receptor-interacting protein-like 1 MGI:2148800 |
Darker colors indicate more annotations |
Human Phenotypes | Abnormal retinal vascular morphology |
Attenuation of retinal blood vessels |
Keratoconus |
Cataract |
Posterior subcapsular cataract |
Abnormal optic disc morphology |
Optic atrophy |
Optic disc pallor |
Macular atrophy |
Abnormality of retinal pigmentation |
Bone spicule pigmentation of the retina |
Retinal degeneration |
Cone/cone-rod dystrophy |
Abnormal electroretinogram |
Undetectable light- and dark-adapted electroretinogram |
Nystagmus |
Pendular nystagmus |
Ophthalmoplegia |
Nyctalopia |
Progressive night blindness |
Photophobia |
Photopsia |
Visual impairment |
Reduced visual acuity |
Blindness |
Severely reduced visual acuity |
Peripheral visual field loss |
Glaucoma |
Disease(s) Associated with AIPL1 | ||||||||||||||||||||||||||||
Leber congenital amaurosis | ||||||||||||||||||||||||||||
Leber congenital amaurosis 4 | ||||||||||||||||||||||||||||
retinitis pigmentosa |
Mouse Phenotypes | abnormal Muller cell morphology |
decreased retina photoreceptor cell number |
decreased retina cone cell number |
abnormal retina bipolar cell morphology |
abnormal retina photoreceptor morphology |
abnormal photoreceptor inner segment morphology |
abnormal photoreceptor outer segment morphology |
abnormal retina cone cell morphology |
retina rod cell degeneration |
retina photoreceptor degeneration |
abnormal retina neuronal layer morphology |
thin retina outer nuclear layer |
abnormal retina outer plexiform layer morphology |
increased susceptibility to age-related retinal degeneration |
retina degeneration |
abnormal electroretinogram waveform feature |
abnormal eye electrophysiology |
abnormal rod electrophysiology |
abnormal visual evoked potential |
absent visual evoked potential |
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Availability | Mouse Genotype | ||||||||||||||||||||
Aipl1tm1Mad/Aipl1tm1Mad | |||||||||||||||||||||
Aipl1tm1Tili/Aipl1tm1Tili | |||||||||||||||||||||
Aipl1tm1Visu/Aipl1tm1Visu | |||||||||||||||||||||
Aipl1tvrm119/Aipl1tvrm119 | |||||||||||||||||||||
Aipl1tvrm127/Aipl1tvrm127 | |||||||||||||||||||||
Aipl1tm1Mad/Aipl1+ | |||||||||||||||||||||
Aipl1tvrm119/Aipl1tvrm127 |
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 08/02/2024 MGI 6.24 |
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