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Symbol
Name
ID
Ift172
intraflagellar transport 172
MGI:2682064
Phenotype annotations related to vision/eye
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
Availability Mouse Genotype
Ift172tm1Lmgd/Ift172tm1Lmgd
Ift172tm2b(EUCOMM)Hmgu/Ift172+
Ift172tm1.1Rama/Ift172tm1.1Rama
Tg(Rho-icre)1Ck/0  (conditional)

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
04/16/2024
MGI 6.23
The Jackson Laboratory