| Monarch Ortholog Phenotypes
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Human (23 sources):
Abnormal electroretinogram,
Abnormality of retinal pigmentation,
Absent retinal pigment epithelium,
Choriocapillaris atrophy,
Chorioretinal atrophy,
Color vision defect,
Cone/cone-rod dystrophy,
Drusen,
Dyschromatopsia,
Foveal photoreceptor outer segment loss on macular OCT,
Full-thickness macular hole,
Hyperautofluorescent macular lesion,
Hypopigmentation of the fundus,
Macular atrophy,
Nyctalopia,
Perifoveal ring of hyperautofluorescence,
Photophobia,
Progressive visual loss,
Reduced visual acuity,
Retinal pigment epithelial mottling,
Slow decrease in visual acuity,
Visual impairment,
Visual loss
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Mouse (12 sources):
abnormal cone electrophysiology,
abnormal eye electrophysiology,
abnormal photoreceptor outer segment morphology,
abnormal rod electrophysiology,
decreased a-wave amplitude,
decreased b-wave amplitude,
decreased retina cone cell number,
decreased retina photoreceptor cell number,
decreased visual acuity,
retina photoreceptor degeneration,
[+]
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.