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Symbol
Name
ID

Rs1
retinoschisis (X-linked, juvenile) 1 (human)
MGI:1336189

Phenotype annotations related to vision/eye

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Vitreous hemorrhage

Abnormality of the eye

Cataract

Macular atrophy

Retinal degeneration

Peripheral cystoid retinal degeneration

Retinal atrophy

Retinal pigment epithelial atrophy

Retinal detachment

Retinoschisis

Mizuo phenomenon

Abnormal electroretinogram

Electronegative electroretinogram

Abnormality of eye movement

Hypermetropia

Abnormality of vision

Progressive visual loss

Glaucoma

Disease(s) Associated with RS1

X-linked juvenile retinoschisis 1

Mouse Phenotypes

vision/eye phenotype

abnormal Muller cell morphology

decreased retina cone cell number

abnormal amacrine cell morphology

abnormal retina photoreceptor morphology

abnormal photoreceptor inner segment morphology

disorganized photoreceptor inner segment

photoreceptor inner segment degeneration

short photoreceptor inner segment

abnormal photoreceptor outer segment morphology

absent photoreceptor outer segment

decreased photoreceptor outer segment number

short photoreceptor outer segment

short retina cone cell outer segment

disorganized photoreceptor outer segment

abnormal retina cone cell morphology

abnormal retina pigment epithelium morphology

abnormal ocular fundus morphology

abnormal retina morphology

abnormal retina layer morphology

abnormal retina neuronal layer morphology

abnormal retina inner nuclear layer morphology

disorganized retina inner nuclear layer

abnormal retina outer nuclear layer morphology

thin retina outer nuclear layer

disorganized retina outer nuclear layer

retina outer nuclear layer degeneration

abnormal retina outer plexiform layer morphology

disorganized retina outer plexiform layer

abnormal retina photoreceptor layer morphology

disorganized retina layers

abnormal electroretinogram waveform feature

decreased a-wave amplitude

decreased b-wave amplitude

abnormal eye electrophysiology

abnormal cone electrophysiology

Availability

Mouse Genotype

Rs1^tm1Sie/Rs1^tm1Sie

Rs1^tmgc1/Rs1^tmgc1

Rs1^tm2.1Rom/Rs1⁺

*

Rs1^tm3.1Rom/Rs1⁺

*

Rs1^em1Fegu/Y

Rs1^tm1.1Rom/Y

Rs1^tm1Sie/Y

Rs1^tm1Web/Y

Rs1^tm2.1Rom/Y

Rs1^tm3.1Rom/Y

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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