Mouse Genome Informatics
ot
    Rs1tm1Bhfw/Y
involves: 129S1/Sv * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Macromorphological evaluation of the Rs1tm1Bhfw/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 (J:76332)
• at 2 months of age, a severe disorganization of the inner nuclear layer is present (J:76332)
• at 2 months of age, a severe disorganization of the outer nuclear layer is present (J:76332)
• extracellular gaps were present between photoreceptor terminals; gaps filled with membraneous whorls and cellular debris (J:76332)
• three-fold fewer cones were present in mutant retinae (J:76332)
• variable absence of photoreceptor outer segments (J:76332)
• ERG analysis demonstrated a loss of b-waves; a-waves had amplitudes of half the normal state (J:76332)
• ERG responses were absent under light-adapted conditions suggesting dysfunction of the cone system (J:76332)

nervous system
• three-fold fewer cones were present in mutant retinae (J:76332)
• variable absence of photoreceptor outer segments (J:76332)

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