Symbol Name ID |
Ift172
intraflagellar transport 172 MGI:2682064 |
Darker colors indicate more annotations |
Human Phenotypes | Attenuation of retinal blood vessels |
Retinal vascular tortuosity |
Astigmatism |
Optic disc drusen |
Optic disc pallor |
Papilledema |
Retinal degeneration |
Rod-cone dystrophy |
Perifoveal ring of hyperautofluorescence |
Oculomotor apraxia |
Hypermetropia |
Hemeralopia |
Nyctalopia |
Constriction of peripheral visual field |
Disease(s) Associated with IFT172 | ||||||||||||||
Bardet-Biedl syndrome 20 | ||||||||||||||
retinitis pigmentosa 71 | ||||||||||||||
short-rib thoracic dysplasia 10 with or without polydactyly |
Mouse Phenotypes | abnormal retina blood vessel morphology |
abnormal photoreceptor outer segment morphology |
abnormal photoreceptor outer segment disc membrane morphology |
short photoreceptor outer segment |
disorganized photoreceptor outer segment |
photoreceptor outer segment degeneration |
retina outer nuclear layer degeneration |
retina degeneration |
anophthalmia |
abnormal electroretinogram waveform feature |
decreased b-wave amplitude |
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Availability | Mouse Genotype | |||||||||||
Ift172tm1Lmgd/Ift172tm1Lmgd | ||||||||||||
Ift172tm2b(EUCOMM)Hmgu/Ift172+ | ||||||||||||
Ift172tm1.1Rama/Ift172tm1.1Rama Tg(Rho-icre)1Ck/0 (conditional) |
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 04/16/2024 MGI 6.23 |
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