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Symbol Name ID |
Nmnat1
nicotinamide nucleotide adenylyltransferase 1 MGI:1913704 |
| Darker colors indicate more annotations |
| Human Phenotypes | Attenuation of retinal blood vessels |
Keratoconus |
Cataract |
Optic atrophy |
Optic disc pallor |
Macular hypopigmentation |
Macular coloboma |
Macular atrophy |
Macular scar |
Bone spicule pigmentation of the retina |
Retinal pigment epithelial mottling |
Retinal degeneration |
Geographic atrophy |
Retinal dots |
Undetectable electroretinogram |
Exotropia |
Nystagmus |
Horizontal nystagmus |
Hypermetropia |
High hypermetropia |
High myopia |
Color vision defect |
Nyctalopia |
Photophobia |
Visual impairment |
Reduced visual acuity |
Ultra-low vision |
Ultra-low vision with retained light perception |
| Disease(s) Associated with NMNAT1 | ||||||||||||||||||||||||||||
| Leber congenital amaurosis 9 | ||||||||||||||||||||||||||||
| spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis |
| Mouse Phenotypes | impaired pupillary reflex |
abnormal retina vasculature morphology |
photoreceptor inner segment degeneration |
short photoreceptor outer segment |
abnormal retina rod cell outer segment morphology |
photoreceptor outer segment degeneration |
retina rod cell degeneration |
retina photoreceptor degeneration |
retina pigment epithelium atrophy |
abnormal retina morphology |
abnormal retina inner nuclear layer morphology |
thin retina inner nuclear layer |
disorganized retina inner nuclear layer |
thin retina outer nuclear layer |
retina outer nuclear layer degeneration |
increased susceptibility to age-related retinal degeneration |
decreased total retina thickness |
retina degeneration |
decreased a-wave amplitude |
decreased b-wave amplitude |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
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| Availability | Mouse Genotype | ||||||||||||||||||||||
| Nmnat1imh/Nmnat1imh | |||||||||||||||||||||||
| Nmnat1tvrm113/Nmnat1tvrm113 | |||||||||||||||||||||||
| Nmnat1tm1Ruch/Nmnat1tm1d(EUCOMM)Wtsi | |||||||||||||||||||||||
| Nmnat1tm1c(EUCOMM)Wtsi/Nmnat1tm1c(EUCOMM)Wtsi Tg(Chx10-EGFP/cre,-ALPP)2Clc/0 (conditional) |
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| Nmnat1tm1c(EUCOMM)Wtsi/Nmnat1tm1c(EUCOMM)Wtsi Tg(Crx-cre/ERT2)1Tfur/0 (conditional) |
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| Nmnat1tm1c(EUCOMM)Wtsi/Nmnat1tm1c(EUCOMM)Wtsi Tg(Rho-icre)1Ck/0 (conditional) |
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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 04/09/2024 MGI 6.23 |
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