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photoreceptor cilium actin regulator
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Attenuation of retinal blood vessels
Bone spicule pigmentation of the retina
Rod-cone dystrophy
Fundus atrophy
Abnormal electroretinogram
Visual impairment
Disease(s) Associated with PCARE
retinitis pigmentosa 54

Mouse Phenotypes
abnormal photoreceptor connecting cilium morphology
abnormal photoreceptor inner segment morphology
short photoreceptor outer segment
disorganized photoreceptor outer segment
photoreceptor outer segment degeneration
retina cone cell degeneration
abnormal retina pigment epithelium morphology
abnormal retina pigmentation
abnormal retina outer nuclear layer morphology
thin retina outer nuclear layer
retina outer nuclear layer degeneration
retina degeneration
retina gliosis
abnormal electroretinogram waveform feature
decreased a-wave amplitude
decreased b-wave amplitude
abnormal cone electrophysiology
abnormal rod electrophysiology
Availability Mouse Genotype

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
MGI 6.13
The Jackson Laboratory