Phenotypes Associated with This Genotype

Genotype
MGI:5313499

• Allelic Composition: Tg(CAG-Rpgr)mRDefWrght/0; Rpgr^tm1Tili/Rpgr^tm1Tili
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

short photoreceptor inner segment ( J:181417 )

♀ • by 2 months of age, the inner segments of the retina are shortened

short photoreceptor outer segment ( J:181417 )

♀ • by 2 months of age, the outer segments of the retina are shortened

disorganized photoreceptor outer segment ( 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

♀ • stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation

abnormal retina cone cell morphology ( J:181417 )

♀ • cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals

retina photoreceptor degeneration ( J:181417 )

♀ • 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

abnormal retina outer nuclear layer morphology ( J:181417 )

♀ • by 2 months of age, mutants show a decrease in the number of nuclei in the outer nuclear layer

nervous system

short photoreceptor inner segment ( J:181417 )

♀ • by 2 months of age, the inner segments of the retina are shortened

short photoreceptor outer segment ( J:181417 )

♀ • by 2 months of age, the outer segments of the retina are shortened

disorganized photoreceptor outer segment ( 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

♀ • stacks of disc membranes are occasionally arranged parallel to the long axis of the outer segments instead of the normal perpendicular orientation

abnormal retina cone cell morphology ( J:181417 )

♀ • cone opsins show mislocalization in the inner segment, perinuclear regions and synaptic terminals

retina photoreceptor degeneration ( J:181417 )

♀ • 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		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 3		DOID:0110414	OMIM:300029	J:181417