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Symbol
Name
ID
Bbs2
Bardet-Biedl syndrome 2
MGI:2135267
Phenotype annotations related to vision/eye
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
Availability Mouse Genotype
Bbs2tm1.1Huss/Bbs2tm1.1Huss
Bbs2tm1Vcs/Bbs2tm1Vcs

Contributing Projects:
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
The Jackson Laboratory