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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Rs1
retinoschisis (X-linked, juvenile) 1 (human)
MGI:1336189
39 phenotypes from 7 alleles in 5 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Rs1em1Fegu/Y
involves: C57BL/6J 		abnormal eye electrophysiology J:282252
abnormal retina morphology J:282252
abnormal retina neuronal layer morphology J:282252
abnormal retina outer plexiform layer morphology J:282252
abnormal retina photoreceptor morphology J:282252
decreased b-wave amplitude J:282252
decreased photoreceptor outer segment number J:282252
disorganized retina inner nuclear layer J:282252
disorganized retina outer nuclear layer J:282252
disorganized retina outer plexiform layer J:282252
photoreceptor inner segment degeneration J:282252
short photoreceptor inner segment J:282252
thin retina outer nuclear layer J:282252
Rs1tm1.1Rom/Y
involves: 129S6/SvEvTac * C57BL/6NTac 		abnormal astrocyte morphology J:285517
abnormal electroretinogram waveform feature J:285517
abnormal eye electrophysiology J:285517
abnormal innervation J:285517
abnormal Muller cell morphology J:285517
abnormal neuron physiology J:285517
abnormal retina cone cell morphology J:285517
abnormal retina layer morphology J:285517
abnormal retina morphology J:285517
decreased a-wave amplitude J:285517
decreased b-wave amplitude J:285517
short retina cone cell outer segment J:285517
thin retina outer nuclear layer J:285517
Rs1tm1Sie/Y
involves: 129S/SvEv * C57BL/6J 		abnormal electroretinogram waveform feature J:126934
abnormal eye electrophysiology J:93040
abnormal retina morphology J:93040
abnormal retina neuronal layer morphology J:93040
abnormal retina photoreceptor layer morphology J:126934
decreased a-wave amplitude J:126934
decreased b-wave amplitude J:126934
disorganized photoreceptor inner segment J:126934
disorganized photoreceptor outer segment J:126934
disorganized retina inner nuclear layer J:126934
disorganized retina layers J:93040
disorganized retina outer nuclear layer J:126934
disorganized retina outer plexiform layer J:126934
retina outer nuclear layer degeneration J:126934
short photoreceptor outer segment J:126934
Rs1tm1Sie/Rs1tm1Sie
involves: 129S/SvEv * C57BL/6J 		abnormal eye electrophysiology J:93040
Rs1tm1Web/Y
involves: 129S1/Sv * C57BL/6 		abnormal cone electrophysiology J:76332
abnormal eye electrophysiology J:76332
abnormal retina morphology J:76332
abnormal retina photoreceptor layer morphology J:76332
absent photoreceptor outer segment J:76332
decreased retina cone cell number J:76332
disorganized retina inner nuclear layer J:76332
disorganized retina outer nuclear layer J:76332
Rs1tm2.1Rom/Y
involves: 129S6/SvEvTac * C57BL/6NTac 		abnormal astrocyte morphology J:285517
abnormal electroretinogram waveform feature J:285517
abnormal eye electrophysiology J:285517
abnormal innervation J:285517
abnormal Muller cell morphology J:285517
abnormal neuron physiology J:285517
abnormal retina cone cell morphology J:285517
abnormal retina layer morphology J:285517
abnormal retina morphology J:285517
decreased a-wave amplitude J:285517
decreased b-wave amplitude J:285517
short retina cone cell outer segment J:285517
thin retina outer nuclear layer J:285517
Rs1tm2.1Rom/Rs1+
involves: 129S6/SvEvTac * C57BL/6NTac 		normal vision/eye phenotype J:285517
Rs1tm3.1Rom/Y
involves: 129S6/SvEvTac * C57BL/6NTac 		abnormal astrocyte morphology J:285517
abnormal electroretinogram waveform feature J:285517
abnormal eye electrophysiology J:285517
abnormal innervation J:285517
abnormal Muller cell morphology J:285517
abnormal neuron physiology J:285517
abnormal retina cone cell morphology J:285517
abnormal retina layer morphology J:285517
abnormal retina morphology J:285517
decreased a-wave amplitude J:285517
decreased b-wave amplitude J:285517
short retina cone cell outer segment J:285517
thin retina outer nuclear layer J:285517
Rs1tm3.1Rom/Rs1+
involves: 129S6/SvEvTac * C57BL/6NTac 		normal vision/eye phenotype J:285517
Rs1tmgc1/Rs1tmgc1
involves: C3H/Rl * C57BL/6 		abnormal amacrine cell morphology J:81149
abnormal eye electrophysiology J:81149, J:99982
abnormal ocular fundus morphology J:99982
abnormal photoreceptor inner segment morphology J:99982
abnormal photoreceptor outer segment morphology J:99982
abnormal retina inner nuclear layer morphology J:99982
abnormal retina neuronal layer morphology J:99982
abnormal retina outer nuclear layer morphology J:99982
abnormal retina outer plexiform layer morphology J:99982
abnormal retina photoreceptor layer morphology J:99982
abnormal retina photoreceptor morphology J:81149
abnormal retina pigment epithelium morphology J:81149
disorganized retina layers J:99982
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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11/12/2024
MGI 6.24 		The Jackson Laboratory