Mouse Genome Informatics
hm
    Rpgrtm1Tili/Rpgrtm1Tili
involves: 129S4/SvJae * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Light micrographs of retinal sections of wild-type and Rpgrtm1Tili/Rpgrtm1Tili mice.

vision/eye
• rhodopsins are not appreciably mislocalized but are reduced in the outer segments (J:61371)
• outer segment length is reduced at 6 months of age (J:61371)
• blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions (J:61371)
• substantial loss of photoreceptor cells by 6 months (J:61371)
• loss of nearly all cones by 2 years of age (J:82755)
• loss of 2/3 of rods by 2 years of age (J:82755)
• thickness of the outer nuclear layer is reduced at 6 months of age (J:61371)
• retinal degeneration apparently under way by 2 months of age (J:61371)
• reduction in photoreceptor nuclear layer thickness (J:61371)
• newly formed disk membranes are disorganized (J:61371)
• connecting cilia are normal (J:61371)
• retinal function normal at 30 days (J:61371)
• abnormal function appears in conjunction with morphological degeneration (J:61371)

nervous system
• rhodopsins are not appreciably mislocalized but are reduced in the outer segments (J:61371)
• outer segment length is reduced at 6 months of age (J:61371)
• blue and green opsins are partially mislocalized to the inner segment, perinuclear, and synaptic regions (J:61371)
• substantial loss of photoreceptor cells by 6 months (J:61371)
• loss of nearly all cones by 2 years of age (J:82755)
• loss of 2/3 of rods by 2 years of age (J:82755)

Mouse Models of Human Disease
OMIM IDRef(s)
Cone-Rod Dystrophy, X-Linked, 1; CORDX1 304020 J:61371
Retinitis Pigmentosa 3; RP3 300029 J:61371