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Phenotypes Associated with This Genotype
Genotype
MGI:5313499
Allelic
Composition
Tg(CAG-Rpgr)mRDefWrght/0
Rpgrtm1Tili/Rpgrtm1Tili
Genetic
Background
involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rpgrtm1Tili mutation (0 available); any Rpgr mutation (2 available)
Tg(CAG-Rpgr)mRDefWrght mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• by 2 months of age, the inner segments of the retina are shortened
• 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
• stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
• by 2 months of age, the outer segments of the retina are shortened
• cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals
• photoreceptor cell loss is seen by 2 months of age
• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age
• by 2 months of age, mutants show a decrease in the number of nuclei in the outer nuclear layer

nervous system
• by 2 months of age, the inner segments of the retina are shortened
• 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
• stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation
• by 2 months of age, the outer segments of the retina are shortened
• cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals
• photoreceptor cell loss is seen by 2 months of age
• retinal cell degeneration is rapid with complete loss of photoreceptors by 8 months of age

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory