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Phenotypes Associated with This Genotype
Genotype
MGI:3046056
Allelic
Composition
Rs1tm1Web/Y
Genetic
Background
involves: 129S1/Sv * C57BL/6
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phenotype observed in females
phenotype observed in males
N normal phenotype

Macromorphological evaluation of the Rs1tm1Web/Y retina with scanning laser ophthalmoscopy

vision/eye
• at 3 months of age, cyst-like structures appear across the entire retina; large cysts in the retinal periphery occasionally displaced superficial vessels
• at 2 months of age, a severe disorganization of the inner nuclear layer is present
• at 2 months of age, a severe disorganization of the outer nuclear layer is present
• extracellular gaps were present between photoreceptor terminals; gaps filled with membraneous whorls and cellular debris
• three-fold fewer cones were present in mutant retinae
• variable absence of photoreceptor outer segments
• ERG analysis demonstrated a loss of b-waves; a-waves had amplitudes of half the normal state
• ERG responses were absent under light-adapted conditions suggesting dysfunction of the cone system

nervous system
• three-fold fewer cones were present in mutant retinae
• variable absence of photoreceptor outer segments

Mouse Models of Human Disease
OMIM ID Ref(s)
Retinoschisis 1, X-Linked, Juvenile; RS1 312700 J:76332


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory