Mouse Genome Informatics
cx
    Tg(CAG-Rpgr)mRDefWrght/0
Rpgrtm1Tili/Rpgrtm1Tili

involves: 129S4/SvJae * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
vision/eye
• by 2 months of age, the inner segments of the retina are shortened (J:181417)
• outer segments are disorganized with disruption of the conventional parallel arrangement of disc membranes and poorly defined outer segment morphologies; perimeters are undefined and disc diameters are greatly expanded (J:181417)
• stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation (J:181417)
• by 2 months of age, the outer segments of the retina are shortened (J:181417)
• cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals (J:181417)
• photoreceptor cell loss is seen by 2 months of age (J:181417)
• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age (J:181417)
• by 2 months of age, mutants show a decrease in the number of nuclei in the outer nuclear layer (J:181417)

nervous system
• by 2 months of age, the inner segments of the retina are shortened (J:181417)
• outer segments are disorganized with disruption of the conventional parallel arrangement of disc membranes and poorly defined outer segment morphologies; perimeters are undefined and disc diameters are greatly expanded (J:181417)
• stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation (J:181417)
• by 2 months of age, the outer segments of the retina are shortened (J:181417)
• cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals (J:181417)
• photoreceptor cell loss is seen by 2 months of age (J:181417)
• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age (J:181417)

Mouse Models of Human Disease
OMIM IDRef(s)
Retinitis Pigmentosa 3; RP3 300029 J:181417