| Monarch Ortholog Phenotypes
|
Human (39 sources):
Abnormal electroretinogram,
Abnormal fundus morphology,
Abnormal light- and dark-adapted electroretinogram,
Abnormal retinal morphology,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of macular pigmentation,
Abnormality of retinal pigmentation,
Anteverted nares,
Atypical scarring of skin,
Blindness,
Cataract,
Conductive hearing impairment,
Congenital stationary night blindness,
Constriction of peripheral visual field,
Glaucoma,
High myopia,
Hyperinsulinemia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Intellectual disability,
Keratoconus,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Optic disc hypoplasia,
Photophobia,
Progressive night blindness,
Reduced visual acuity,
Rod-cone dystrophy,
Sensorineural hearing impairment,
Strabismus,
Type II diabetes mellitus,
Visual impairment,
Wide nasal bridge
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Mouse (26 sources):
abnormal Muller cell morphology,
abnormal cone electrophysiology,
abnormal eye electrophysiology,
abnormal eye size,
abnormal photoreceptor outer segment morphology,
abnormal retina blood vessel morphology,
abnormal retina cone cell morphology,
abnormal retina outer nuclear layer morphology,
abnormal retina rod cell morphology,
abnormal retina vasculature morphology,
abnormal rod electrophysiology,
abnormal whole-body plethysmography,
absent photoreceptor outer segment,
absent retina rod cells,
decreased circulating amylase level,
decreased locomotor activity,
decreased retina photoreceptor cell number,
decreased total retina thickness,
decreased visual acuity,
increased cellular hemoglobin content,
increased mean corpuscular hemoglobin concentration,
retina outer nuclear layer degeneration,
retina photoreceptor degeneration,
retina rod cell degeneration,
thin retina outer nuclear layer,
vision/eye phenotype
[+]
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View all ortholog results at Monarch
|
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.