Symbol Name ID |
Bbs2
Bardet-Biedl syndrome 2 MGI:2135267 |
Darker colors indicate more annotations |
Human Phenotypes | Astigmatism |
Cataract |
Posterior polar cataract |
Optic disc pallor |
Pigmentary retinopathy |
Retinal degeneration |
Retinal dystrophy |
Cone/cone-rod dystrophy |
Rod-cone dystrophy |
Hypertelorism |
Abnormal electroretinogram |
Strabismus |
Nystagmus |
Color vision defect |
Nyctalopia |
Photophobia |
Reduced visual acuity |
Blindness |
Constriction of peripheral visual field |
Disease(s) Associated with BBS2 | |||||||||||||||||||
Bardet-Biedl syndrome | |||||||||||||||||||
Bardet-Biedl syndrome 2 | |||||||||||||||||||
retinitis pigmentosa 74 |
Mouse Phenotypes | decreased retina cone cell number |
decreased retina rod cell number |
disorganized photoreceptor outer segment |
thin retina outer nuclear layer |
retina outer nuclear layer degeneration |
increased susceptibility to age-related retinal degeneration |
abnormal eye electrophysiology |
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Availability | Mouse Genotype | |||||||
Bbs2tm1.1Huss/Bbs2tm1.1Huss | ||||||||
Bbs2tm1Vcs/Bbs2tm1Vcs |
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 04/30/2024 MGI 6.23 |
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