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Symbol Name ID |
Bbs1
Bardet-Biedl syndrome 1 MGI:1277215 |
| Darker colors indicate more annotations |
| Human Phenotypes | Attenuation of retinal blood vessels |
Astigmatism |
Cataract |
Bone spicule pigmentation of the retina |
Retinal degeneration |
Retinal dystrophy |
Cone/cone-rod dystrophy |
Rod-cone dystrophy |
Hyperautofluorescent macular lesion |
Hypertelorism |
Abnormal electroretinogram |
Strabismus |
Nystagmus |
Myopia |
Color vision defect |
Nyctalopia |
Photophobia |
Reduced visual acuity |
Blindness |
Peripheral visual field loss |
Glaucoma |
| Disease(s) Associated with BBS1 | |||||||||||||||||||||
| Bardet-Biedl syndrome | |||||||||||||||||||||
| Bardet-Biedl syndrome 1 |
| Mouse Phenotypes | abnormal retina photoreceptor morphology |
disorganized photoreceptor inner segment |
photoreceptor inner segment degeneration |
abnormal photoreceptor outer segment morphology |
disorganized photoreceptor outer segment |
abnormal eye morphology |
microphthalmia |
retina outer nuclear layer degeneration |
retina degeneration |
anophthalmia |
abnormal eye electrophysiology |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
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| Availability | Mouse Genotype | |||||||||||||
| Bbs1Gt1Nk/Bbs1Gt1Nk | ||||||||||||||
| Bbs1tm1Vcs/Bbs1tm1Vcs | ||||||||||||||
| Bbs1em1(IMPC)Mbp/Bbs1+ | ||||||||||||||
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 04/23/2024 MGI 6.23 |
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